ID	chrom	interval_start	interval_end	gene_name	alias_symbol	hgnc_id	Ensembl_gene_id	gene_start	gene_end	strand	omim_gene_id	omim_disease_id	orphanet_id	disease_name	hpo	do	source	omim_link	disease_description
rs269316	chr1	52635933	53635933	ORC1	HSORC1|PARC1	8487	ENSG00000085840	52838501	52870131	-	601902	224690	NA	Meier-Gorlin syndrome 1	0012385;0008551;0002007;0000059;0200055;0000252;0003100;0002020;0000963;0003510;0000365;0002750;0000057;0000376;0001388;0000911;0001547;0000179;0006628;0001511;0011968;0002644;0002937;0000773;0012725;0000175;0000895;0012745;0000218;0000049;0003187;0000347;0000327;0009473;0000160;0010554;0000028;0004279;0000486;0001425;0001795;0000369;0004209;0000413;0000768;0006591;0009118;0001623;0000883;0008665;0002857;0000064;0001249;0002098;0000691;0008872;0000581;0000054;0003561;0008736;0000237;0012471;0001762;0032012;0002970;0004322;0001518;0006498;0003042;0000527;0002979;0001371;0001508	0080512	Decipher;Genomics England;OMIM	https://www.omim.org/entry/224690	A syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal.
rs269316	chr1	52635933	53635933	ORC1	HSORC1|PARC1	8487	ENSG00000085840	52838501	52870131	-	601902	617063	2554	Meier-Gorlin syndrome 7	0004442;0000356;0009939;0001629;0000772;0005458;0001388;0000193;0000545;0002878;0000453;0000175;0003244;0012227;0000064;0008661;0002705;0000520;0100258;0003042;0001508;0000253;0008551;0001363;0000252;0012732;0001674;0000365;0006443;0009892;0011968;0007099;0005692;0000347;0001263;0000028;0002025;0045074;0100490;0006695;0001511;0000278;0032012;0000260;0006498;0000486;0000059;0002094;0006660;0003510;0002750;0000358;0000076;0002089;0000218;0000327;0004209;0000369;0000413;0005930;0002098;0100867;0000054;0012471;0000047;0000176;0001328;0000060;0001678;0004691;0003100;0002023;0001510;0001631;0000039;0011267;0100783;0000160;0002650;0001249;0008665;0004325;0008736;0001217;0004322;0002979	0060306;0080518	Orphanet	NA	A form of Meier-Gorlin syndrome, a syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal. MGORS7 inheritance is autosomal recessive.
rs269316	chr1	52635933	53635933	COA7	FLJ12439|RESA1	25716	ENSG00000162377	53152508	53164038	-	615623	618387	NA	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3	0002460;0003236;0002936;0003693;0001260;0001315;0002066;0001310;0001765;0001337;0002352;0001272;0003376;0003477;0001761;0009027;0001265;0001251	0070465	Genomics England;OMIM	https://www.omim.org/entry/618387	Spinocerebellar ataxia with axonal neuropathy-3 (SCAN3) is an autosomal recessive neuromuscular disorder characterized by onset in the first decade of slowly progressive distal muscle weakness and atrophy and distal sensory impairment due to an axonal peripheral neuropathy. Affected individuals have gait disturbances and sometimes manual dexterity difficulties, as well as cerebellar ataxia associated with cerebellar atrophy on brain imaging. Additional features usually include dysarthria, hyporeflexia, and increased serum creatine kinase. Some patients may have impaired intellectual development (summary by Higuchi et al., 2018).
rs269316	chr1	52635933	53635933	SCP2	NA	10606	ENSG00000116171	53392901	53517375	+	184755	613724	163684	Leukoencephalopathy with dystonia and motor neuropathy	0000027;0000473;0000815	NA	Genomics England;OMIM;Orphanet	https://www.omim.org/entry/613724	Leukoencephalopathy-dystonia-motor neuropathy syndrome is a peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy.
rs773607	chr1	113314074	114314074	SLC16A1	MCT|MCT1	10922	ENSG00000155380	113454469	113498975	-	600682	245340	171690	Erythrocyte lactate transporter defect	0008967;0003710;0003457;0009020;0003236	NA	Genomics England;OMIM;Orphanet	https://www.omim.org/entry/245340	Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase.
rs773607	chr1	113314074	114314074	SLC16A1	MCT|MCT1	10922	ENSG00000155380	113454469	113498975	-	600682	610021	165991	Hyperinsulinemic hypoglycemia, familial, 7	0000825;0001425;0000842;0001325;0002173;0001943	0070214	Genomics England;OMIM;Orphanet	https://www.omim.org/entry/610021	A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells. Presentation is of recurring episodes of hypoglycemia associated with elevated insulin levels, within 30 minutes of a short period of anaerobic exercise. The degree of hypoglycemia associated with exercise is variable and is only partially responsive to diazoxide.
rs773607	chr1	113314074	114314074	SLC16A1	MCT|MCT1	10922	ENSG00000155380	113454469	113498975	-	600682	616095	438075	Monocarboxylate transporter 1 deficiency	0001249;0012734;0001263;0011968;0001993	NA	Genomics England;OMIM;Orphanet	https://www.omim.org/entry/616095	A rare disorder of ketone body transport characterized by recurrent episodes of ketoacidosis provoked by fasting or infections in the first years of life. The episodes are typically preceded by poor feeding and vomiting and are associated with dehydration, in severe cases also with decreased consciousness and insufficient respiratory drive. Hypoglycemia is observed only infrequently. Patients with homozygous mutations tend to present at a younger age, have more profound ketoacidosis, and may show mild to moderate developmental delay in addition.
rs773607	chr1	113314074	114314074	LRIG2	KIAA0806	20889	ENSG00000198799	113615831	113674882	+	608869	236730	2704	Urofacial syndrome 1	0000010;0000020;0001959;0010677;0000796;0000822;0002019;0002607;0010481;0000126;0000076;0000028;0001999;0000805;0000072;0005346;0000083	0050816	Decipher;Genomics England;Orphanet	NA	The urofacial syndrome (UFS) is a rare autosomal recessive disease characterized by a severe and early-onset form of dysfunctional urinary voiding. Affected individuals usually present prenatally or in early childhood with grossly distorted renal tracts, comprising dysmorphic bladders and dilatation of the ureter and renal pelvis. They are at high risk of vesicoureteral reflux (VUR), with ascending bacterial infection leading to kidney damage, hypertension, and renal failure. One-third of UFS children also experience constipation or fecal soiling, suggesting that the pathophysiology of the syndrome encompasses a broader functional impairment of elimination. In addition, affected individuals have a characteristic facial grimace when trying to smile (summary by Daly et al., 2010).
rs773607	chr1	113314074	114314074	LRIG2	KIAA0806	20889	ENSG00000198799	113615831	113674882	+	608869	615112	NA	Urofacial syndrome 2	0010677;0000012;0002019;0032465;0000126;0000076;0000805;0000083	0050816	Genomics England;OMIM	https://www.omim.org/entry/615112	Urofacial syndrome (UFS; Ochoa syndrome) is an autosomal recessive disorder characterized by congenital urinary bladder dysfunction associated with an abnormal facial expression upon smiling, laughing, and crying. Affected individuals have an overactive detrusor muscle that fails to fully expel urine because of concomitant internal sphincter contraction, and patients may experience lifelong urinary incontinence, recurrent urosepsis, vesicoureteral reflux, and renal failure. In addition, some patients have severe constipation, indicating a generalized elimination defect (summary by Stuart et al., 2013).
rs2661302	chr1	162565352	163565352	DDR2	TKT	2731	ENSG00000162733	162602255	162757190	+	191311	271665	93358	Spondylometaepiphyseal dysplasia, short limb-hand type	0001252;0002007;0009931;0002176;0002983;0002987;0000767;0006532;0009826;0030043;0002869;0003015;0003196;0002787;0000926;0011800;0003311;0000907;0001591;0000464;0003085;0000773;0005622;0000218;0002827;0009875;0000316;0009381;0003467;0003320;0006009;0010655;0000347;0008873;0001263;0002651;0000272;0005280;0001840;0006600;0005462;0002650;0000922;0003026;0003396;0002091;0001290;0002970;0000520;0001230;0010049;0009164;0005257;0002979;0006380	0112196	Decipher;Genomics England;OMIM;Orphanet	https://www.omim.org/entry/271665	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal.
rs2661302	chr1	162565352	163565352	DDR2	TKT	2731	ENSG00000162733	162602255	162757190	+	191311	618175	NA	Warburg-Cinotti syndrome	0000962;0001653;0000405;0009797;0000821;0000963;0000358;0002107;0009771;0011800;0000689;0000678;0001386;0000212;0000218;0040162;0025092;0000369;0000276;0000460;0008404;0007502;0000286;0000581;0045025;0000973;0001371	NA	OMIM	https://www.omim.org/entry/618175	Warburg-Cinotti syndrome (WRCN) is characterized by progressive corneal neovascularization, keloid formation, chronic skin ulcers, wasting of subcutaneous tissue, flexion contractures of the fingers, and acroosteolysis (Xu et al., 2018).
rs6707984	chr2	2545791	3545791	TRAPPC12	CGI-87|TTC-15	24284	ENSG00000171853	3383446	3483338	+	614139	617669	500144	Encephalopathy, progressive, early-onset, with brain atrophy and spasticity	0011344;0001561;0012110;0002490;0002059;0200136;0000252;0012796;0001274;0002020;0030043;0000365;0002521;0007096;0001338;0001250;0011968;0011471;0011097;0002120;0030890;0002376;0001257;0009879;0002015;0001332;0002650;0000011;0002119;0001605;0011451;0100704;0001336;0008936;0001298;0005484;0000648	NA	Genomics England;OMIM;Orphanet	https://www.omim.org/entry/617669	A rare, genetic neurological disorder characterized by early-onset severe global developmental delay with regression, congenital or acquired microcephaly, hearing loss, truncal hypotonia, appendicular spasticity, and dystonia and/or myoclonus.
rs6707984	chr2	2545791	3545791	TRAPPC12	CGI-87|TTC-15	24284	ENSG00000171853	3383446	3483338	+	614139	NA	NA	Progressive childhood encephalopathy and golgi dysfunction	0012110;0010864;0001250;0000252;0009879;0008610	NA	Decipher	NA	NA
rs4670637	chr2	36664857	37664857	CRIM1	NA	2359	ENSG00000150938	36583069	36778278	+	606189	602499	NA	Macrophthalmia, colobomatous, with microcornea	0000588	NA	Genomics England	NA	NA
rs4670637	chr2	36664857	37664857	CRIM1	NA	2359	ENSG00000150938	36583069	36778278	+	606189	NA	NA	Colobomatous macrophthalmia with microcornea syndrome	0000589	NA	Decipher	NA	NA
rs4670637	chr2	36664857	37664857	CRIM1	NA	2359	ENSG00000150938	36583069	36778278	+	606189	NA	468672	Colobomatous macrophthalmia-microcornea syndrome	NA	NA	Orphanet	NA	A rare genetic eye disease characterized by microcornea, coloboma of the iris and the optic disc, axial enlargement of the globe, staphyloma, and severe myopia. Additional manifestations are mild cornea plana, iridocorneal angle abnormalities with elevation of intraocular pressure, and shallow anterior chamber depth. Variable expressivity of the phenotype has been described, including unilateral or bilateral involvement, or variable extent of coloboma, among other features.
rs4670637	chr2	36664857	37664857	EIF2AK2	PKR|PPP1R83	9437	ENSG00000055332	37326353	37384190	-	176871	602554	256	Torsion dystonia with onset in infancy	0001276;0003011;0001288;0100022;0001608;0001304	0090058	Orphanet	NA	A rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures that typically begins in a single limb and, in most individuals, followed by progressive involvement of other limbs and the trunk, typically sparing the cranial and cervical region.
rs4670637	chr2	36664857	37664857	EIF2AK2	PKR|PPP1R83	9437	ENSG00000055332	37326353	37384190	-	176871	618877	NA	Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome	0010867;0001252;0002059;0000322;0001276;0001999;0003429;0000601;0001260;0001510;0031936;0001250;0002172;0012448;0002071;0001337;0000639;0000347;0002352;0001272;0001263;0000483;0000750;0002376;0004209;0001257;0100543;0001332;0001300;0002119;0001336;0001511;0001290;0000286;0002079;0032012;0040195;0000486;0001371;0001251	NA	Genomics England;OMIM	https://www.omim.org/entry/618877	Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome (LEUDEN) is characterized by global developmental delay apparent in early childhood, followed by episodic neurologic regression or decompensation associated with systemic stress, such as febrile infection. Affected individuals have hypotonia, gait difficulties or ataxia, poor or absent speech with dysarthria, and variable motor abnormalities, including spasticity, dystonia, extrapyramidal signs, and tremor. Many patients have seizures. Brain imaging shows diffuse white matter abnormalities, poor myelination, thin corpus callosum, and generalized cerebral atrophy with enlarged ventricles. The clinical features of the disorder and the abnormal brain imaging findings are progressive (summary by Mao et al., 2020).
rs4670637	chr2	36664857	37664857	EIF2AK2	PKR|PPP1R83	9437	ENSG00000055332	37326353	37384190	-	176871	619687	NA	Dystonia 33	0002533;0000511;0002544;0002425;0002355;0001260;0004373;0001337;0002505;0003701;0003487;0001257;0002015;0007325;0002650;0001270;0001249;0008936;0012049;0002530;0001347;0000473;0000643	NA	OMIM	https://www.omim.org/entry/619687	Dystonia-33 (DYT33) is a neurologic disorder characterized by onset of focal or generalized dystonia in the first decades of life (from early childhood to adolescence). The disorder is slowly progressive and may result in ambulation difficulties, dysarthria, or dysphagia. There is variable expressivity even with a family, as well as incomplete penetrance of the phenotype. Most mutations are in the heterozygous state, but a homozygous mutation with autosomal recessive inheritance has been reported, indicating variable patterns of transmission of DYT33. Some patients may have a more complex neurologic disorder with motor delay, lower limb spasticity, mild developmental delay with cognitive impairments, and nonspecific brain imaging abnormalities. There may be an exacerbation of the symptoms coinciding with viral infection or stress. Deep brain stimulation (DBS) may be therapeutic (summary by Kuipers et al., 2021).
rs4670637	chr2	36664857	37664857	EIF2AK2	PKR|PPP1R83	9437	ENSG00000055332	37326353	37384190	-	176871	NA	NA	Eif2ak2-associated developmental delay, leukoencephalopathy, and neurologic decompensation	NA	NA	Decipher	NA	NA
rs10183172	chr2	241495014	242495014	CAPN10	NA	1477	ENSG00000142330	241526133	241538526	+	605286	601283	NA	Diabetes mellitus, noninsulin-dependent 1	NA	9352	OMIM	https://www.omim.org/entry/601283	 A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.
rs10183172	chr2	241495014	242495014	CAPN10	NA	1477	ENSG00000142330	241526133	241538526	+	605286	NA	NA	Autosomal recessive intellectual developmental disorder	NA	NA	Decipher	NA	NA
rs10183172	chr2	241495014	242495014	GPR35	NA	4492	ENSG00000178623	241544848	241570676	+	602646	613806	171	Cholangitis, primary sclerosing	0001744;0000989;0001635;0011892;0100575;0000938;0001395;0001541;0003073;0012115;0012522;0100727;0003459;0100513;0100279;0001396;0001433;0002240;0100626;0001824;0030168;0100869;0001409;0030153;0006554;0000952;0000083;0002202;0005429;0002960;0100646;0012378;0001733;0002608;0004905;0011034;0010638;0000939;0001081;0001945;0001402;0012700;0008151;0000716;0001879;0000554;0002027;0003700;0001298;0001394;0012440;0100512;0040275;0100651;0002910	0060643	Orphanet	NA	Primary sclerosing cholangitis (PSC) is a slowly progressive cholestatic liver disease characterized by fibroobliterative inflammation of the biliary tract, leading to cirrhosis and portal hypertension. It is a major indication for liver transplantation (Sheth et al., 2003).
rs10183172	chr2	241495014	242495014	KIF1A	UNC104	888	ENSG00000130294	241653181	241759637	-	601255	201300	970	Neuropathy, hereditary sensory and autonomic, type II	0001252;0000975;0002661;0001284;0002020;0002797;0009771;0003103;0001315;0001818;0011968;0003028;0008391;0001810;0001182;0003272;0001069;0003448;0003307;0005930;0004349;0002645;0002815;0001290;0000224;0001842;0003202;0001265	0070161;0070155	Orphanet	NA	 A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has material basis in mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13.
rs10183172	chr2	241495014	242495014	KIF1A	UNC104	888	ENSG00000130294	241653181	241759637	-	601255	260565	2836	PEHO syndrome	0000253;0001252;0000341;0100022;0000252;0000400;0003196;0002521;0002187;0007965;0011800;0010864;0000238;0010741;0010804;0001250;0011968;0000496;0002804;0100540;0000212;0004422;0000648;0001182;0002120;0008572;0001376;0001272;0007366;0000293;0001263;0002353;0000177;0000174;0000272;0002205;0002132;0000194;0002119;0000572;0001336;0001290;0000286;0000278;0000463;0002079;0012398;0001347;0002329;0006829;0012469;0001371	0080539	Orphanet	NA	PEHO is a severe autosomal recessive neurodevelopmental disorder characterized by extreme cerebellar atrophy due to almost total loss of granule neurons. Affected individuals present in early infancy with hypotonia, profoundly delayed psychomotor development, optic atrophy, progressive atrophy of the cerebellum and brainstem, and dysmyelination. Most patients also develop infantile seizures that are often associated with hypsarrhythmia on EEG, and many have peripheral edema (summary by Anttonen et al., 2017).
rs10183172	chr2	241495014	242495014	KIF1A	UNC104	888	ENSG00000130294	241653181	241759637	-	601255	610357	101010	Spastic paraplegia 30, autosomal recessive	0012407;0100275;0007141;0002395;0002936;0003693;0000708;0000570;0002839;0002064;0001310;0008969;0011448;0001272;0003477;0003474;0003487;0100543;0002317;0001270;0007020;0001317;0001347;0007340;0002061;0001251	0110781	Genomics England;OMIM;Orphanet	https://www.omim.org/entry/610357	Spastic paraplegia-30 (SPG30) is a neurologic disorder characterized by onset of slowly progressive spastic paraplegia in the first or second decades of life. Affected individuals have unsteady spastic gait and hyperreflexia of the lower limbs. Some patients have a 'pure' form of the disorder, limited to spastic paraplegia, whereas others may have a 'complicated' form that includes cognitive dysfunction, learning disabilities, or behavioral abnormalities, peripheral sensorimotor neuropathy, urinary sphincter problems, and/or cerebellar atrophy with thin corpus callosum on brain imaging. The phenotypic features represent a spectrum of abnormalities of the central, peripheral, and autonomic nervous system (summary by Pennings et al., 2020).
rs10183172	chr2	241495014	242495014	KIF1A	UNC104	888	ENSG00000130294	241653181	241759637	-	601255	612581	178469	Intellectual developmental disorder, autosomal dominant 4	0009237;0001249;0011800;0000577;0010864;0001159;0001831;0000272;0000331;0000446	0070034;0060307	Orphanet	NA	 An autosomal dominant intellectual developmental disorder that has material basis in an autosomal dominant mutation of the KIRREL3 gene on chromosome 11q24.2.
rs10183172	chr2	241495014	242495014	KIF1A	UNC104	888	ENSG00000130294	241653181	241759637	-	601255	614213	NA	Neuropathy, hereditary sensory, type IIC	0001249;0001315;0001263;0001284;0004322;0001265	0070147	Decipher;Genomics England;OMIM	https://www.omim.org/entry/614213	HSN2C is an autosomal recessive disorder characterized by onset in the first decade of progressive distal sensory loss leading to ulceration and amputation of the fingers and toes. Affected individuals also develop distal muscle weakness, primarily affecting the lower limbs (summary by Riviere et al., 2011).
rs10183172	chr2	241495014	242495014	KIF1A	UNC104	888	ENSG00000130294	241653181	241759637	-	601255	614255	NA	NESCAV syndrome	;0002059;0000252;0002355;0000708;0001510;0001250;0002500;0000639;0002808;0001272;0001263;0001371;0003477;0003487;0001257;0002650;0001249;0100704;0008936;0001762;0001347;0000750;0000648	0070039	Decipher;Genomics England;OMIM	https://www.omim.org/entry/614255	NESCAV syndrome (NESCAVS) is a neurodegenerative disorder characterized by onset of features in infancy or early childhood. Affected individuals show global developmental delay with delayed walking or difficulty walking due to progressive spasticity mainly affecting the lower limbs and often leading to loss of independent ambulation. There is variably impaired intellectual development, speech delay, and learning disabilities and/or behavioral abnormalities. Additional features may include cortical visual impairment, often associated with optic atrophy, axonal peripheral neuropathy, seizures, dysautonomia, ataxia, and dystonia. Brain imaging often shows progressive cerebellar atrophy and thin corpus callosum. Some patients may show developmental regression, particularly of motor skills. The phenotype and presentation are highly variable (summary by Nemani et al., 2020).
rs10183172	chr2	241495014	242495014	AGXT	AGXT1|PH1|AGT|SPT|AGT1|TLH6|Ser-PyrAT	341	ENSG00000172482	241807896	241818537	+	604285	259900	93598	Hyperoxaluria, primary, type 1	0001138;0000759;0001678;0011506;0012722;0004417;0000965;0000924;0033505;0001903;0000010;0002756;0030880;0000805;0003159;0012213;0002621;0000083;0000164;0008672;0003761;0001942;0002653;0001271;0001063;0000121;0003774;0000787;0005309;0000488;0000790;0025324;0001939;0100518;0100758;0000479;0011021;0011001;0001297;0009830;0000648;0001508	0111670	Decipher;Genomics England;OMIM;Orphanet	https://www.omim.org/entry/259900	Primary hyperoxaluria type I is an autosomal recessive disorder characterized by an accumulation of calcium oxalate in various bodily tissues, especially the kidney, resulting in renal failure. Affected individuals have decreased or absent AGXT activity and a failure to transaminate glyoxylate, which causes the accumulated glyoxylate to be oxidized to oxalate. This overproduction of oxalate results in the accumulation of nonsoluble calcium oxalate in various body tissues, with pathologic sequelae (Takada et al., 1990; Danpure et al., 1989; Williams et al., 2009)
rs13319174	chr3	9364401	10364401	SETD5	FLJ10707|SETD5A	25566	ENSG00000168137	9439403	9519838	+	615743	615761	404440	Intellectual developmental disorder, autosomal dominant 23	;0000294;0007018;0001252;0002194;0004691;0000664;0000431;0012450;0001629;0010663;0000494;0000729;0000540;0001488;0002714;0000193;0000678;0012377;0001250;0000028;0011968;0100559;0000545;0000582;0001830;0000175;0000248;0100023;0002808;0000534;0000347;0002002;0000343;0000219;0001263;0000190;0003244;0002360;0000486;0000483;0002553;0000369;0005105;0001627;0002373;0000319;0003307;0002307;0005280;0002650;0001249;0000581;0009836;0000463;0000722;0100259;0032012;0000047;0002566;0003781;0000739;0000750;0000568;0012718	0070053	Decipher;Genomics England;OMIM;Orphanet	https://www.omim.org/entry/615761	A rare, syndromic intellectual disability characterized by intellectual disability of various severity, hypotonia, feeding difficulties, dysmorphic features, autism and behavioral issues. Growth retardation, congenital heart anomalies, gastrointestinal and genitourinary defects have been rarely associated.
rs13319174	chr3	9364401	10364401	MTMR14	FLJ22405|FLJ90311|hJumpy|hEDTP	26190	ENSG00000163719	9691146	9744076	+	611089	160150	169189	Centronuclear myopathy 1	0001561;0000508;0001048;0002194;0030319;0001284;0004488;0002355;0008180;0000544;0010546;0008997;0003458;0008981;0012768;0002047;0008994;0000020;0002522;0000028;0003803;0007209;0001520;0003477;0003738;0002021;0003687;0002747;0001270;0000883;0001290;0001558;0000597;0001436	0111223;0111217	Genomics England;OMIM;Orphanet	https://www.omim.org/entry/160150	Centronuclear myopathy-1 (CNM1) is an autosomal dominant congenital myopathy characterized by slowly progressive muscular weakness and wasting. The disorder involves mainly limb girdle, trunk, and neck muscles but may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life, and some affected individuals become wheelchair-bound in their fifties. Ptosis and limitation of eye movements occur frequently. The most prominent histopathologic features include high frequency of centrally located nuclei in a large number of extrafusal muscle fibers (which is the basis of the name of the disorder), radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers (summary by Bitoun et al., 2005).
rs13319174	chr3	9364401	10364401	BRPF1	BR140	14255	ENSG00000156983	9773434	9789699	+	602410	617333	NA	Intellectual developmental disorder with dysmorphic facies and ptosis	0012385;0001252;0000311;0000508;0012447;0000431;0000322;0000252;0000494;0012368;0002714;0001510;0031936;0011968;0000337;0000377;0000316;0000343;0000160;0001263;0000750;0000369;0000154;0001249;0001511;0001290;0000581;0001762;0032012;0004322;0000486	NA	Genomics England;OMIM	https://www.omim.org/entry/617333	Intellectual developmental disorder with dysmorphic facies and ptosis is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and dysmorphic facial features, most notably ptosis/blepharophimosis. Additional features may include poor growth, hypotonia, and seizures (summary by Mattioli et al., 2017).
rs13319174	chr3	9364401	10364401	BRPF1	BR140	14255	ENSG00000156983	9773434	9789699	+	602410	NA	NA	Brpf1 associated syndromic intellectual disability with ptosis	NA	NA	Decipher	NA	NA
rs13319174	chr3	9364401	10364401	OGG1	HMMH|HOGG1|OGH1|MUTM	8125	ENSG00000114026	9791628	9799091	+	601982	144700	422526	Renal cell carcinoma	0005584	0050387	OMIM;Orphanet	https://www.omim.org/entry/144700	The Heidelberg histologic classification of renal cell tumors subdivides renal cell tumors into benign and malignant parenchymal neoplasms and, where possible, limits each subcategory to the most common documented genetic abnormalities (Kovacs et al., 1997). Malignant tumors are subclassified into common or conventional renal cell carcinoma (clear cell); papillary renal cell carcinoma; chromophobe renal cell carcinoma; collecting duct carcinoma, with medullary carcinoma of the kidney; and unclassified renal cell carcinoma. The common or conventional type accounts for about 75% of renal cell neoplasms and is characterized genetically by a highly specific deletion of chromosome 3p. Papillary renal cell carcinoma (see 605074) accounts for about 10% of renal cell tumors. Chromophobe renal cell carcinoma accounts for approximately 5% of renal cell neoplasms. Genetically, chromophobe RCC is characterized by a combination of loss of heterozygosity of chromosomes 1, 2, 6, 10, 13, 17, and 21 and hypodiploid DNA content. Collecting duct carcinoma accounts for about 1% of renal cell carcinoma.
rs13319174	chr3	9364401	10364401	ARPC4	p20-Arc|ARC20	707	ENSG00000241553	9834242	9849410	+	604226	620141	NA	Developmental delay, language impairment, and ocular abnormalities	0007018;0002194;0001999;0000252;0500041;0000565;0031936;0000519;0000718;0000347;0000219;0001263;0000752;0001249;0000577;0100704;0000126;0100710;0040195;0000486;0006919	NA	Genomics England;OMIM	https://www.omim.org/entry/620141	Developmental delay, language impairment, and ocular abnormalities (DEVLO) is characterized by delayed acquisition of skills particularly affecting speech and language development, although many patients show mild motor delay. Most affected individuals also have a small head circumference (down to -3 SD) and may have mild dysmorphic features. Variable ocular anomalies include strabismus, cataracts, and cortical visual impairment. Older patients require special schooling and often demonstrate behavioral abnormalities (Laboy Cintron et al., 2022).
rs13319174	chr3	9364401	10364401	ARPC4	p20-Arc|ARC20	707	ENSG00000241553	9834242	9849410	+	604226	NA	NA	Arpc4-related microcephaly and developmental delay	NA	NA	Decipher	NA	NA
rs13319174	chr3	9364401	10364401	CIDEC	CIDE-3|FLJ20871|Fsp27	24229	ENSG00000187288	9908398	9920740	-	612120	615238	435651	Lipodystrophy, familial partial, type 5	0000956;0009017;0009125;0001953;0003119;0003635;0030685;0008981;0003712;0002240;0000831;0003292;0002155;0001733;0000292;0000876;0001397;0000147	0070203	Genomics England;OMIM;Orphanet	https://www.omim.org/entry/615238	A rare, genetic lipodystrophy characterized by abnormal subcutaneous fat distribution, resulting in preservation of visceral, neck and axilliary fat and absence of lower limb and femorogluteal subcutaneous fat. Additional clinical features are acanthosis nigricans, insulin-resistant type II diabetes mellitus, dyslipidemia, and hypertension, leading to pancreatitis, hepatomegaly and hepatic steatosis.
rs13319174	chr3	9364401	10364401	JAGN1	GL009|FLJ14602	26926	ENSG00000171135	9932238	9936033	+	616012	616022	423384	Neutropenia, severe congenital, 6, autosomal recessive	0031292;0002718;0001875;0000403;0002205;0004322;0001882;0001508	0112134	Genomics England;OMIM;Orphanet	https://www.omim.org/entry/616022	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency is a rare, genetic, primary immunodeficiency disorder characterized by early-onset, recurrent, severe bacterial infections, granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and markedly reduced absolute neutrophil counts, resulting from recessively inherited mutations in the <i>JAGN1</i> gene. Mild facial dysmorphism (i.e. triangular face), short stature, failure to thrive, hypothyroidism, developmental delay, pancreatic insufficiency and coarctation of aorta, as well as bone and urogenital abnormalities, may also be associated.
rs13319174	chr3	9364401	10364401	JAGN1	GL009|FLJ14602	26926	ENSG00000171135	9932238	9936033	+	616012	NA	NA	Severe congenital neutropenia	NA	NA	Decipher	NA	NA
rs13319174	chr3	9364401	10364401	IL17RC	IL17-RL	18358	ENSG00000163702	9958758	9975301	+	610925	607644	1334	Candidiasis, familial, 3	0000989;0000962;0200034;0004306;0001597;0012115;0008396;0000010;0008388;0004370;0001250;0000988;0010783;0000951;0000142;0002719;0100825;0030016;0002715;0002205;0001231;0200042;0000504;0000790;0012735;0008872;0001821;0002105;0000153;0000478;0000159;0000682	2058	Orphanet	NA	 A candidiasis that refers to a heterogeneous group of disorders characterized by recurrent or persistent superficial fungal infections located in skin, located in mucous membrane, or located in nail due to T-cell defects, has-agent Candida species and has symptom scaling of skin lesions, has symptom thickening of nails, has symptom swollen periungal tissue, and has symptom scarring of the scalp.
rs13319174	chr3	9364401	10364401	IL17RC	IL17-RL	18358	ENSG00000163702	9958758	9975301	+	610925	616445	NA	Candidiasis, familial, 9	0011107;0012203	2058	Genomics England;OMIM	https://www.omim.org/entry/616445	 A candidiasis that refers to a heterogeneous group of disorders characterized by recurrent or persistent superficial fungal infections located in skin, located in mucous membrane, or located in nail due to T-cell defects, has-agent Candida species and has symptom scaling of skin lesions, has symptom thickening of nails, has symptom swollen periungal tissue, and has symptom scarring of the scalp.
rs13319174	chr3	9364401	10364401	CRELD1	CIRRIN	14630	ENSG00000163703	9975524	9987097	+	607170	606217	NA	Atrioventricular septal defect, susceptibility to, 2	0001651;0001425;0010445;0004935;0010882;0012020	NA	Genomics England;OMIM	https://www.omim.org/entry/606217	NA
rs13319174	chr3	9364401	10364401	CRELD1	CIRRIN	14630	ENSG00000163703	9975524	9987097	+	607170	615779	99067	Congenital heart defects, multiple types, 4	0001629;0001680;0001674;0002020;0004383;0001631;0001655;0001684;0001263;0032092;0001643;0001650;0010444;0006695;0001636;0000776;0001719	NA	Orphanet	NA	The multiple types of congenital heart defects observed in CHTD4 include atrial, ventricular, and atrioventricular septal defects, double-outlet right ventricle, tetralogy of Fallot, hypoplastic left heart syndrome, aortic stenosis, and coarctation of the aorta. Intrafamilial variability and incomplete penetrance has been reported (Al Turki et al., 2014; Qiao et al., 2018). Some patients exhibit syndromic features such as developmental delay, congenital diaphragmatic hernia, and severe gastroesophageal reflux (High et al., 2016; Upadia et al., 2018).
rs13319174	chr3	9364401	10364401	CRELD1	CIRRIN	14630	ENSG00000163703	9975524	9987097	+	607170	NA	NA	Heterotaxy syndrome	NA	NA	Decipher	NA	NA
rs13319174	chr3	9364401	10364401	CRELD1	CIRRIN	14630	ENSG00000163703	9975524	9987097	+	607170	NA	576235	Partial atrioventricular septal defect without ventricular hypoplasia	NA	NA	Orphanet	NA	NA
rs13319174	chr3	9364401	10364401	FANCD2	FAD|FA-D2	3585	ENSG00000144554	10068098	10141344	+	613984	227646	NA	Fanconi anemia, complementation group D2	0001873;0000356;0000252;0000978;0001909;0002564;0040012;0000365;0001903;0009777;0001875;0000815;0012210;0003974;0009943;0001882;0000957;0003221;0008572;0001000;0000598;0000028;0001627;0000953;0000104;0001172;0003213;0009942;0000081;0001017;0001249;0003214;0030680;0001896;0000085;0032012;0009778;0004322;0001518;0000486;0001876;0000568;0000086	0111083	Decipher;Genomics England;OMIM	https://www.omim.org/entry/227646	Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).
rs13319174	chr3	9364401	10364401	FANCD2	FAD|FA-D2	3585	ENSG00000144554	10068098	10141344	+	613984	300514	84	Fanconi anemia, complementation group B	0001679;0002823;0001639;0001646;0000815;0000238;0007874;0000582;0000453;0000175;0003022;0000135;0000083;0002863;0000340;0001562;0000104;0008053;0000077;0000286;0001871;0001537;0000520;0008678;0001347;0006265;0100760;0000864;0000252;0000365;0001760;0002575;0006824;0007400;0000027;0001824;0002827;0001053;0002245;0000347;0000505;0100026;0000028;0001263;0000492;0410049;0002414;0001172;0000504;0002119;0002251;0100542;0007565;0004349;0001511;0000324;0000486;0000518;0001873;0001671;0001199;0000035;0000268;0001770;0000010;0040071;0005344;0000218;0002817;0000639;0012745;0000483;0004209;0012041;0000234;0000130;0100867;0006101;0001763;0000047;0000478;0000364;0005522;0002007;0000508;0012639;0001392;0000072;0010469;0006501;0002664;0001903;0002023;0100587;0001510;0000079;0001631;0012210;0010293;0000316;0001882;0008572;0001000;0003220;0001643;0002650;0001249;0001636;0000813;0004322;0000568	0111098;13636	Orphanet	NA	Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).
rs13319174	chr3	9364401	10364401	VHL	VHL1	12687	ENSG00000134086	10182692	10193904	+	608537	114900	NA	Carcinoid tumors, intestinal	;0006723	0050925	Genomics England	NA	NA
rs13319174	chr3	9364401	10364401	VHL	VHL1	12687	ENSG00000134086	10182692	10193904	+	608537	144700	NA	Renal cell carcinoma	0005584	0050387	OMIM	https://www.omim.org/entry/144700	The Heidelberg histologic classification of renal cell tumors subdivides renal cell tumors into benign and malignant parenchymal neoplasms and, where possible, limits each subcategory to the most common documented genetic abnormalities (Kovacs et al., 1997). Malignant tumors are subclassified into common or conventional renal cell carcinoma (clear cell); papillary renal cell carcinoma; chromophobe renal cell carcinoma; collecting duct carcinoma, with medullary carcinoma of the kidney; and unclassified renal cell carcinoma. The common or conventional type accounts for about 75% of renal cell neoplasms and is characterized genetically by a highly specific deletion of chromosome 3p. Papillary renal cell carcinoma (see 605074) accounts for about 10% of renal cell tumors. Chromophobe renal cell carcinoma accounts for approximately 5% of renal cell neoplasms. Genetically, chromophobe RCC is characterized by a combination of loss of heterozygosity of chromosomes 1, 2, 6, 10, 13, 17, and 21 and hypodiploid DNA content. Collecting duct carcinoma accounts for about 1% of renal cell carcinoma.
rs13319174	chr3	9364401	10364401	VHL	VHL1	12687	ENSG00000134086	10182692	10193904	+	608537	158350	NA	Lhermitte-Duclos disease	0003468;0011774;0001252;0000956;0002564;0001031;0001014;0001888;0004313;0001382;0001943;0000238;0000545;0001256;0001028;0100031;0000872;0000957;0002808;0500009;0003005;0006740;0001012;0005490;0000034;0003198;0200034;0002576;0012844;0000767;0001626;0003196;0000365;0012032;0006824;0000982;0009777;0000337;0000347;0100646;0000131;0001263;0010609;0000040;0100673;0002573;0000538;0003517;0000750;0000486;0000518;0000972;0002558;0002194;0000256;0000138;0000494;0000836;0000854;0025318;0000089;0001513;0004390;0200016;0000218;0004422;0000327;0007074;0007873;0012081;0002253;0002858;0002410;0000853;0002080;0002315;0000221;0001251;0001161;0002007;0004099;0008897;0000821;0004481;0010619;0002023;0002345;0000771;0001250;0100615;0002093;0012871;0002516;0000158;0000343;0000160;0003002;0002719;0000646;0005280;0000717;0002650;0002126;0002017;0001249;0001102	0050657	Genomics England	NA	Cowden syndrome-1 is a hamartomatous disorder characterized by macrocephaly, facial trichilemmomas, acral keratoses, papillomatous papules, and an increased risk for the development of breast, thyroid, and endometrial carcinoma. Bannayan-Riley-Ruvalcaba syndrome (BRRS), previously thought be distinct, shared clinical characteristics with Cowden syndrome, such as hamartomatous polyps of the gastrointestinal tract, mucocutaneous lesions, and increased risk of developing neoplasms, but had the additional features of developmental delay, macrocephaly, lipomas, hemangiomas, and pigmented speckled macules of the glans penis in males. Because features of BRRS and Cowden syndrome have been found in individuals within the same family with the same PTEN mutation, Cowden syndrome-1 and BRRS are considered to be the same disorder with variable expression and age-related penetrance (summary by Marsh et al., 1999, Lachlan et al., 2007, and Blumenthal and Dennis, 2008).
rs13319174	chr3	9364401	10364401	VHL	VHL1	12687	ENSG00000134086	10182692	10193904	+	608537	168000	NA	Pheochromocytoma/paraganglioma syndrome 1	0000405;0000975;0006715;0001609;0006748;0001649;0001962;0002864;0006737;0003001;0001686;0008629;0001605;0002886;0000822;0030074;0002668;0000739;0002315	0050773	Genomics England	NA	Pheochromocytoma/paraganglioma syndrome-1 (PPGL1) is an autosomal dominant disorder characterized by the development of neuroendocrine tumors, usually in adulthood. Pheochromocytomas arise from chromaffin cells in the adrenal medulla, whereas paragangliomas arise in extra-adrenal sympathetic ganglia in the thorax, abdomen, and pelvis or from parasympathetic paraganglia in the head and neck area (summary by Cascon et al., 2023).
rs13319174	chr3	9364401	10364401	VHL	VHL1	12687	ENSG00000134086	10182692	10193904	+	608537	171300	NA	Pheochromocytoma, susceptibility to	0001635;0001574;0000975;0001626;0001095;0003072;0002664;0000875;0000707;0001920;0000519;0001028;0000957;0001649;0000093;0002666;0003574;0003345;0001939;0001871;0001342;0000478;0000818;0000119	0050771	Decipher;Genomics England;OMIM	https://www.omim.org/entry/171300	Pheochromocytomas are catecholamine-secreting tumors that usually arise within the adrenal medulla. Approximately 10% arise in extraadrenal sympathetic ganglia, and are referred to as 'paragangliomas.' Approximately 10% are malignant, and approximately 10% are hereditary (Maher and Eng, 2002; Dluhy, 2002).
rs13319174	chr3	9364401	10364401	VHL	VHL1	12687	ENSG00000134086	10182692	10193904	+	608537	193300	892	von Hippel-Lindau syndrome, modifier of	0005584;0002894;0000975;0012819;0001658;0003418;0001095;0005954;0030424;0001737;0006770;0001297;0001085;0030405;0001901;0009711;0003334;0002321;0002516;0006748;0010797;0005162;0001962;0005562;0000980;0009763;0006880;0008261;0011675;0002666;0011976;0040049;0000572;0001638;0009053;0003484;0000822;0002027;0030393;0009715;0000541;0002668;0000360;0031207;0000478;0000739;0002315	14175	Decipher;Genomics England;OMIM;Orphanet	https://www.omim.org/entry/193300	Von Hippel-Lindau syndrome (VHLS) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), pheochromocytoma, and pancreatic tumors.
rs13319174	chr3	9364401	10364401	VHL	VHL1	12687	ENSG00000134086	10182692	10193904	+	608537	263400	238557	Erythrocytosis, familial, 2	0002615;0001898;0001050;0002315;0012378;0001342;0002619;0002597;0001900;0001028;0002641;0001297;0001901;0001899	0060474	Genomics England;OMIM;Orphanet	https://www.omim.org/entry/263400	Familial erythrocytosis-2 (ECYT2) is an autosomal recessive disorder characterized by increased red blood cell mass, increased serum levels of erythropoietin (EPO; 133170), and normal oxygen affinity. Patients with ECYT2 carry a high risk for peripheral thrombosis and cerebrovascular events (Cario, 2005). Familial erythrocytosis-2 has features of both primary and secondary erythrocytosis. In addition to increased circulating levels of EPO, consistent with a secondary, extrinsic process, erythroid progenitors may be hypersensitive to EPO, consistent with a primary, intrinsic process (Prchal, 2005).
rs13319174	chr3	9364401	10364401	VHL	VHL1	12687	ENSG00000134086	10182692	10193904	+	608537	606864	NA	Paraganglioma and gastric stromal sarcoma	0006824;0005584;0005214;0002239;0002027;0001824;0002668;0002015;0000360;0002666;0000365;0100723	0080533	Genomics England	NA	Gastrointestinal stromal tumors may be sporadic or inherited in an autosomal dominant manner, alone or as a component of a syndrome associated with other tumors, such as in the context of neurofibromatosis type 1 (NF1). Patients have both gastrointestinal stromal tumors and paragangliomas. Susceptibility to the tumors was inherited in an apparently autosomal dominant manner, with incomplete penetrance.
rs13319174	chr3	9364401	10364401	VHL	VHL1	12687	ENSG00000134086	10182692	10193904	+	608537	618464	29072	Pheochromocytoma/paraganglioma syndrome 6	0001635;0005584;0000405;0002018;0001293;0002574;0001095;0003072;0000096;0012222;0000740;0025269;0011979;0001824;0001618;0001337;0006748;0009711;0001069;0001962;0002864;0006737;0000980;0012378;0000093;0008629;0003639;0010532;0000526;0003574;0001605;0003345;0000790;0002640;0000822;0031284;0001342;0002331;0011703;0002668;0100749;0003528	NA	Orphanet	NA	A rare, hereditary, pheochromocytoma/paraganglioma tumor arising from neuroendocrine chromaffin cells of the adrenal medulla (pheochromocytoma) or from any paraganglia from the skull base to the pelvic floor (paraganglioma). Clinical manifestations are often linked to excess catecholamines production causing sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, palpitations, pallor and apprehension or anxiety. Hereditary pheochromocytoma/paraganglioma tumors tend to present at younger ages, to be multi-focal, bilateral, and recurrent, or to have multiple synchronous neoplasms.
rs13319174	chr3	9364401	10364401	VHL	VHL1	12687	ENSG00000134086	10182692	10193904	+	608537	NA	276621	Sporadic pheochromocytoma/secreting paraganglioma	0001635;0000405;0002018;0001293;0002574;0001095;0003072;0000096;0000740;0025269;0011979;0001824;0001618;0001337;0006748;0001069;0001962;0002864;0006737;0000980;0012378;0000093;0008629;0003639;0010532;0003574;0001605;0003345;0000790;0002640;0031284;0001342;0002331;0011703;0002668;0100749	NA	Orphanet	NA	A rare, isolated, non-familial pheochromocytoma/paraganglioma tumor arising from neuroendocrine chromaffin cells of the adrenal medulla (pheochromocytoma) or from extra-adrenal chromaffin tissue (paraganglioma). The majority of these tumors are benign and the presenting symptoms are typically caused by the increased catecholamine production of the tumor, including hypertension (often paroxysmal), tachycardia, anxiety and/or excessive sweating.
rs13319174	chr3	9364401	10364401	GHRL	MTLRP|ghrelin|obestatin	18129	ENSG00000157017	10327359	10334631	-	605353	601665	NA	Obesity, late-onset	0000956;0008213;0002297;0002591;0009126;0002750;0001396;0001513;0001510;0002173;0000824;0011734;0000823;0008915;0001010;0008245;0000842;0001508	9970	OMIM	https://www.omim.org/entry/601665	 An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has material basis in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.
rs4591488	chr3	13318385	14318385	WNT7A	Wnt-7a	12786	ENSG00000154764	13857755	13921618	-	601570	228930	2854	Fuhrmann syndrome	0006492;0000431;0002987;0001159;0000141;0000885;0000189;0000470;0001798;0003510;0001770;0002866;0003252;0003041;0006443;0001802;0001849;0000475;0000046;0002937;0001773;0002986;0006495;0009380;0009104;0003982;0006143;0000218;0000286;0002827;0000377;0008363;0008817;0003070;0002436;0000916;0001552;0005474;0000028;0000369;0000276;0006262;0002984;0000768;0001964;0004231;0001385;0030084;0009465;0000151;0006101;0002990;0003498;0001171;0009767;0010173;0002980;0009829;0001762;0006585;0010769;0100259;0001162;0000047;0004322;0006502;0001374;0000884;0002557;0008839;0005914;0005613;0012165;0001180	0090067	Decipher;Genomics England;OMIM;Orphanet	https://www.omim.org/entry/228930	 A bone development disease that is characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly that has material basis in autosomal recessive inheritance of homozygous mutation in the Wnt family member 7A (WNT7A) gene on chromosome 3p25.
rs4591488	chr3	13318385	14318385	WNT7A	Wnt-7a	12786	ENSG00000154764	13857755	13921618	-	601570	276820	2879	Ulna and fibula, absence of, with severe limb deficiency	0400004;0006487;0001883;0002983;0000431;0002987;0000885;0000470;0001798;0003196;0003252;0003041;0009821;0002023;0002575;0001849;0000475;0000046;0001362;0002937;0001773;0002986;0002435;0009380;0030276;0003982;0000175;0002992;0012165;0000218;0002827;0000377;0008363;0000411;0000347;0008817;0001789;0008517;0002436;0000916;0001552;0005474;0003244;0000028;0005773;0000369;0000276;0000768;0002984;0100257;0004231;0001964;0000151;0009103;0001180;0002990;0003498;0009767;0000189;0001511;0008736;0000286;0006585;0010769;0002705;0000047;0000324;0000884;0002557;0005914;0002164	0112181	Genomics England;OMIM;Orphanet	https://www.omim.org/entry/276820	A rare genetic syndrome with limb reduction defects characterized by skeletal malformations comprising absent or hypoplastic pelvic bones (including sacral agenesis or hypoplasia), intercalary limb deficiencies (phocomelia potentially combined with polydactyly, oligodactyly or ectrodactyly), and skull defects (frequently a defect of the occipital bone with or without meningocele). Additional features may include thoracic dystrophy, dysmorphic facial features (dysplastic and large ears, and a high and narrow palate), and genital malformations (Mullerian aplasia, agenesis of the uterus and vagina, micropenis with cryptorchidism). Growth and mental development are not affected.
rs4591488	chr3	13318385	14318385	WNT7A	Wnt-7a	12786	ENSG00000154764	13857755	13921618	-	601570	603596	NA	Polydactyly	NA	1148	Genomics England	NA	NA
rs4591488	chr3	13318385	14318385	TMEM43	MGC3222|DKFZp586G1919|LUMA	28472	ENSG00000170876	14166440	14185179	+	612048	604400	NA	Arrhythmogenic right ventricular dysplasia 5	0001635;0001712;0006682;0001962;0100660;0100749	0110074	Genomics England;OMIM	https://www.omim.org/entry/604400	A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias.
rs4591488	chr3	13318385	14318385	TMEM43	MGC3222|DKFZp586G1919|LUMA	28472	ENSG00000170876	14166440	14185179	+	612048	610193	293888	Arrhythmogenic right ventricular dysplasia 10	0034364;0001962;0004756;0004308;0001645;0011663	0110081	Orphanet	NA	A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias.
rs4591488	chr3	13318385	14318385	TMEM43	MGC3222|DKFZp586G1919|LUMA	28472	ENSG00000170876	14166440	14185179	+	612048	612999	98853	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	0001252;0004631;0000508;0001644;0001678;0001771;0002987;0001288;0000767;0009125;0003418;0001639;0011807;0002486;0003236;0006785;0008997;0003557;0003458;0001387;0002515;0001513;0008948;0001315;0002878;0000912;0002155;0002093;0008994;0003560;0005155;0002808;0030117;0003307;0011675;0003141;0010444;0001645;0002650;0002747;0008064;0001605;0001249;0003306;0001638;0003691;0005115;0003805;0008956;0003198;0030051	0070250	Orphanet	NA	A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects.
rs4591488	chr3	13318385	14318385	TMEM43	MGC3222|DKFZp586G1919|LUMA	28472	ENSG00000170876	14166440	14185179	+	612048	614302	NA	Emery-Dreifuss muscular dystrophy 7, AD	0031546;0000467;0001662;0003701;0007126;0011675;0005110;0003560;0003557	0070252	Genomics England;OMIM	https://www.omim.org/entry/614302	A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects.
rs4591488	chr3	13318385	14318385	TMEM43	MGC3222|DKFZp586G1919|LUMA	28472	ENSG00000170876	14166440	14185179	+	612048	619832	NA	Auditory neuropathy, autosomal dominant 3	0001963	0112373	OMIM	https://www.omim.org/entry/619832	 An autosomal dominant nonsyndromic deafness characterized by progressive hearing loss with inability to discriminate speech but preserved sensitivity to sound, preservation of outer hair cell function and abnormal or absent auditory brainstem responses and that has material basis in heterozygous mutation in the TMEM43 gene on chromosome 3p25.1.
rs4591488	chr3	13318385	14318385	XPC	XPCC|RAD4	12816	ENSG00000154767	14186647	14220283	-	613208	194400	910	Xeroderma pigmentosum, autosomal dominant, mild	0000962;0004493;0100585;0100012;0000491;0000992;0004334;0000995;0000252;0009755;0001596;0000963;0000365;0002861;0002664;0002750;0007759;0006887;0000498;0001315;0001034;0000621;0001250;0002071;0010783;0010649;0000135;0000164;0001053;0002120;0012740;0001508;0002353;0003355;0000028;0012378;0002376;0001257;0001029;0000953;0008734;0100543;0001945;0000656;0002829;0000613;0001480;0000407;0012733;0001072;0001059;0001009;0004322;0000958;0000486;0000524;0000518;0009830;0000648;0001251	0050427	Orphanet	NA	Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms).
rs4591488	chr3	13318385	14318385	XPC	XPCC|RAD4	12816	ENSG00000154767	14186647	14220283	-	613208	278720	NA	Xeroderma pigmentosum, group C	0000656;0001010;0003079;0000613;0000992;0000491;0006739;0002671;0000621;0025127;0004334;0012056;0001029;0001009;0000509	0110844	Decipher;Genomics England;OMIM	https://www.omim.org/entry/278720	Xeroderma pigmentosum is a genetically heterogeneous condition characterized by increased sensitivity to ultraviolet (UV) irradiation and increased risk of skin cancer resulting from a defect in DNA repair. XPC is the most common form of XP in the white population, accounting for over a third of all cases in this group (review by Li et al., 1993).
rs12509316	chr4	36078372	37078372	DTHD1	FLJ16686	37261	ENSG00000197057	36285644	36347377	+	616979	NA	NA	Retinal dystrophy	0001141;0000556;0003198	NA	Decipher	NA	NA
rs556778	chr6	72262390	73262390	RIMS1	RIM|KIAA0340|RIM1	17282	ENSG00000079841	72596727	73110416	+	606629	603649	NA	Cone-rod dystrophy 7	0000613;0007401;0011504;0032026;0007641;0000548	0111012	Decipher	NA	An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.
rs556778	chr6	72262390	73262390	RIMS1	RIM|KIAA0340|RIM1	17282	ENSG00000079841	72596727	73110416	+	606629	615163	1872	Cone-rod dystrophy 17	0000505;0000613;0007703;0000543;0000551;0000603;0000662	0050572;0111023	Orphanet	NA	A rare genetic isolated inherited retinal disorder characterized by primary cone degeneration with significant secondary rod involvement, with a variable fundus appearance. Typical presentation includes decreased visual acuity, central scotoma, photophobia, color vision alteration, followed by night blindness and loss of peripheral visual field.
rs11152966	chr6	106089885	107089885	ATG5	ASP|APG5|hAPG5	589	ENSG00000057663	106632351	106773666	-	604261	617584	NA	Spinocerebellar ataxia, autosomal recessive 25	0007263;0031936;0001263;0001321;0001310;0100543;0002078;0000639;0001348	0080259	OMIM	https://www.omim.org/entry/617584	 An autosomal recessive cerebellar ataxia that has material basis in homozygous mutation in the ATG5 gene on chromosome 6q21.
rs11152966	chr6	106089885	107089885	RTN4IP1	NIMP	18647	ENSG00000130347	107019846	107077362	-	610502	258500	98676	Optic atrophy 6	0000642	0111435;5723	Orphanet	NA	A rare hereditary optic atrophy characterized by an early onset of bilateral optic nerve degeneration without other systemic features. Clinical manifestations include pallor of the optic disks, severe but slowly progressing visual impairment, and in some patients also paracentral scotoma, photophobia and dyschromatopsia.
rs11152966	chr6	106089885	107089885	RTN4IP1	NIMP	18647	ENSG00000130347	107019846	107077362	-	610502	616732	NA	Optic atrophy 10 with or without ataxia, impaired intellectual development and seizures	0000649;0001249;0000505;0000613;0007976;0000543;0000551;0000603;0001256;0007663;0002197;0000639;0000648;0001251	0111434	Decipher;Genomics England;OMIM	https://www.omim.org/entry/616732	 An optic atrophy characterized by early-onset optic neuropathy and mitochondrial defects that has material basis in homozygous or compound heterozygous mutation in the RTN4IP1 gene on chromosome 6q21.
rs11152966	chr6	106089885	107089885	RTN4IP1	NIMP	18647	ENSG00000130347	107019846	107077362	-	610502	NA	NA	Early-onset recessive optic neuropathy	NA	NA	Decipher	NA	NA
rs11152966	chr6	106089885	107089885	QRSL1	GatA|FLJ10989|FLJ12189|DKFZP564C1278|FLJ13447|GATA	21020	ENSG00000130348	107077453	107116292	+	617209	618835	570491	Combined oxidative phosphorylation deficiency 40	0001252;0002059;0001639;0003236;0001541;0001903;0001943;0001510;0002240;0011968;0003128;0002878;0012448;0002093;0001789;0002919;0001622;0010444;0000407;0001290;0003348;0001298;0001397;0002910;0001508	0112117	Genomics England;OMIM;Orphanet	https://www.omim.org/entry/618835	Combined oxidative phosphorylation deficiency-40 (COXPD40) is an autosomal recessive mitochondrial disorder with onset in utero or soon after birth. Affected individuals have severe hypertrophic cardiomyopathy, poor growth, and sensorineural hearing loss. Laboratory studies show evidence of mitochondrial dysfunction, such as lactic acidosis. Patient-derived tissues and cells show variably decreased activities of mitochondrial respiratory complexes I, III, IV, and V. The disorder is lethal, with no reported patients surviving past infancy (summary by Friederich et al., 2018).
rs10251565	chr7	23900399	24900399	GSDME	ICERE-1	2810	ENSG00000105928	24737972	24797732	-	608798	600994	NA	Deafness, autosomal dominant 5	0000408	0110575	Genomics England;OMIM	https://www.omim.org/entry/600994	 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life and high frequency progressive hearing loss, and has material basis in heterozygous mutation in the gasdermin E (GSDME) gene on chromosome 7p15.
rs10251565	chr7	23900399	24900399	GSDME	ICERE-1	2810	ENSG00000105928	24737972	24797732	-	608798	615654	90635	Deafness, autosomal dominant 58	0000365;0000360	0050564;0110582	Orphanet	NA	 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2p21-p12.
rs6973488	chr7	37175112	38175112	NME8	CILD6|SPTRX2|NM23-H8|DNAI8	16473	ENSG00000086288	37888199	37940003	+	607421	610852	NA	Ciliary dyskinesia, primary, 6	0030853;0200109;0003363;0001696;0011108	0110606	OMIM	https://www.omim.org/entry/610852	A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.
rs6973488	chr7	37175112	38175112	NME8	CILD6|SPTRX2|NM23-H8|DNAI8	16473	ENSG00000086288	37888199	37940003	+	607421	612274	244	Ciliary dyskinesia, primary, 8	0001746;0000405;0002110;0032016;0001742;0002643;0000403;0032543;0000510;0000365;0012206;0000924;0100750;0011617;0011274;0000389;0000238;0100582;0002878;0031245;0030828;0005301;0011109;0002257;0011535;0003251;0001627;0006536;0010772;0001669;0011947;0000119;0002119;0008222;0011539;0002011;0005425;0030680;0025576;0001217;0031456;0025177;0002566;0001696;0001748;0000750;0001719	9562;0110616	Orphanet	NA	A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of the patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy).
rs6973488	chr7	37175112	38175112	SFRP4	frpHE|FRP-4|FRPHE|FRZB-2	10778	ENSG00000106483	37945543	37956517	-	606570	265900	3005	Pyle disease	0004349;0002689;0000938;0002738;0002753;0000684	NA	Genomics England;OMIM;Orphanet	https://www.omim.org/entry/265900	Pyle disease is characterized by long bones with wide and expanded trabecular metaphyses, thin cortical bone, and bone fragility. Fractures are common in Pyle disease, and fracture lines usually go through the abnormally wide metaphyses, revealing their fragility (summary by Kiper et al., 2016).
rs38567	chr7	81397246	82397246	HGF	SF|F-TCF|HGFB|HPTA	4893	ENSG00000019991	81328322	81399514	-	142409	608265	NA	Deafness, autosomal recessive 39	0000399	0110497	Genomics England;OMIM	https://www.omim.org/entry/608265	 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, downsloping hearing loss and has material basis in mutation in the HGF gene on chromosome 7q21.
rs38567	chr7	81397246	82397246	HGF	SF|F-TCF|HGFB|HPTA	4893	ENSG00000019991	81328322	81399514	-	142409	614414	90636	Deafness, autosomal recessive 96	0000365	0110489;0110538	Orphanet	NA	Autosomal recessive deafness-96 (DFNB96) is a form of nonsyndromic sensorineural severe to profound hearing impairment with prelingual onset (summary by Ansar et al., 2011).
rs38567	chr7	81397246	82397246	CACNA2D1	lncRNA-N3|alpha2delta-1	1399	ENSG00000153956	81575760	82073114	-	114204	301058	442835	Developmental and epileptic encephalopathy 90	0012547;0007018;0000508;0002540;0001273;0012447;0002019;0002059;0010844;0001999;0000252;0002355;0012444;0007359;0000494;0002020;0000729;0001382;0002521;0001388;0000708;0100660;0031936;0000280;0001315;0200134;0002465;0011968;0002063;0001250;0001337;0000212;0011097;0002133;0000639;0000648;0000668;0000348;0002421;0001508;0011443;0001263;0000486;0002013;0002376;0001257;0001268;0002307;0000717;0002317;0002650;0000504;0000546;0002509;0001249;0100704;0001336;0000297;0001290;0002027;0001298;0003763;0001344;0100710;0004322;0002104;0003781;0001347;0001558;0000750;0004305;0001265;0001251	0070381	Orphanet	NA	Developmental and epileptic encephalopathy-90 (DEE90) is an X-linked neurologic disorder characterized by onset of refractory seizures in the first days or months of life. Although most patients have focal seizures associated with oromotor automatisms and apnea, various seizure types may occur, including epileptic spasms, generalized tonic-clonic, and absence. EEG shows multifocal discharges; hypsarrhythmia, intermittent burst suppression, and slow spike-wave background resembling Lennox-Gastaut syndrome may also be observed. Affected individuals have global developmental delay with variable severity, but it is usually profound or severe. Some are unable to walk or speak, whereas others may achieve some milestones and show autistic features (summary by Fry et al., 2021).
rs38567	chr7	81397246	82397246	CACNA2D1	lncRNA-N3|alpha2delta-1	1399	ENSG00000153956	81575760	82073114	-	114204	609622	51083	Short QT syndrome 3	0001962;0001678;0001279;0001662;0005110;0004308;0001663;0001645;0012232	0050793	Orphanet	NA	Short QT syndrome is a cardiac channelopathy associated with a predisposition to atrial fibrillation and sudden cardiac death. Patients have a structurally normal heart, but electrocardiography (ECG) exhibits abbreviated QTc (Bazett's corrected QT) intervals of less than 360 ms (summary by Moreno et al., 2015).
rs38567	chr7	81397246	82397246	CACNA2D1	lncRNA-N3|alpha2delta-1	1399	ENSG00000153956	81575760	82073114	-	114204	612838	130	Brugada syndrome 5	0004751;0002069;0001279;0011705;0004755;0001663;0011704;0011712;0001649;0002373;0002121;0010819;0011710;0001695;0012251;0004308;0011715	0050451;0110222	Orphanet	NA	Brugada syndrome is characterized by an ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts. The syndrome typically manifests during adulthood, with a mean age of sudden death of 41 +/- 15 years, but also occurs in infants and children (summary by Antzelevitch et al., 2005).
rs38567	chr7	81397246	82397246	CACNA2D1	lncRNA-N3|alpha2delta-1	1399	ENSG00000153956	81575760	82073114	-	114204	620149	NA	Developmental and epileptic encephalopathy 110	0001252;0000341;0002310;0000400;0000252;0033454;0012736;0010804;0200134;0001250;0011968;0040288;0000218;0000639;0000817;0002421;0007021;0002360;0000369;0001257;0000194;0001249;0100704;0000297;0001290;0002072;0002079;0001344;0040195;0001508	0070395	OMIM	https://www.omim.org/entry/620149	Developmental and epileptic encephalopathy-110 (DEE110) is an autosomal recessive disorder characterized by profound global developmental delay and hypotonia apparent in infancy followed by onset of seizures in the first months or years of life. Affected individuals achieve almost no developmental milestones and show impaired intellectual development, poor or absent speech, inability to walk or grasp objects, peripheral spasticity, and poor eye contact. Brain imaging shows hypoplastic corpus callosum and cortical atrophy (Dahimene et al., 2022).
rs38567	chr7	81397246	82397246	CACNA2D1	lncRNA-N3|alpha2delta-1	1399	ENSG00000153956	81575760	82073114	-	114204	NA	NA	Cacna2d1-related neurodevelopmental disorder 	NA	NA	Decipher	NA	NA
rs38567	chr7	81397246	82397246	PCLO	KIAA0559|DKFZp779G1236|ACZ	13406	ENSG00000186472	82383329	82792246	-	604918	608027	97249	Pontocerebellar hypoplasia, type 3	0002059;0000252;0000400;0002365;0000365;0003510;0000637;0002714;0001250;0000218;0000248;0002421;0000293;0000343;0001263;0000369;0001257;0001319;0005280;0008936;0001321;0004325;0002079;0000520;0001347;0004322;0000648	0060272	OMIM;Orphanet	https://www.omim.org/entry/608027	A rare, genetic form of pontocerebellar hypoplasia (PCH) characterized by neocortical and pontocerebellar hypoplasia with pons and cerebellum equally affected and that clinically manifests with neonatal hypotonia and impaired swallowing followed by seizures, optic atrophy and short stature from infancy onward. Movement disorders, as seen in other forms of PCH, are absent.
rs2272221	chr7	83143687	84143687	SEMA3E	M-SemaK|KIAA0331|coll-5	10727	ENSG00000170381	82993222	83278326	-	608166	214800	138	CHARGE syndrome	0001252;0004058;0000567;0001629;0000772;0000729;0001888;0000684;0001646;0010515;0001601;0000453;0000175;0003022;0002992;0000588;0000050;0000272;0000104;0010442;0010443;0000286;0008872;0010669;0001537;0100736;0002901;0002139;0001156;0004348;0000625;0000648;0008551;0000252;0000742;0000365;0001642;0001360;0006824;0000044;0002575;0005368;0001305;0011968;0004404;0000347;0000834;0000824;0000028;0001263;0001291;0410030;0001018;0002015;0000066;0002025;0009906;0000504;0000410;0000321;0200021;0001511;0000407;0000126;0000048;0000324;0009778;0000486;0000376;0007018;0001671;0001883;0008213;0000458;0000494;0007360;0000632;0000089;0010628;0000378;0000589;0000076;0000830;0003974;0000639;0000275;0007209;0000008;0000359;0004209;0000394;0002553;0002247;0002410;0000384;0000396;0000054;0000085;0000368;0000478;0001719;0010751;0001161;0011382;0001561;0000508;0005113;0008897;0000821;0002020;0002023;0002032;0004496;0001631;0002937;0000465;0002093;0000316;0008572;0000160;0000480;0000860;0001643;0000823;0005280;0000717;0001539;0002650;0001249;0001636;0030680;0001171;0008736;0011611;0000722;0000528;0000612;0010978;0004322;0000568;0000204	0050834	Genomics England;Orphanet	NA	CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).
rs2272221	chr7	83143687	84143687	SEMA3E	M-SemaK|KIAA0331|coll-5	10727	ENSG00000170381	82993222	83278326	-	608166	613724	NA	Leukoencephalopathy with dystonia and motor neuropathy	0000027;0000473;0000815	NA	Genomics England	NA	A syndrome characterized by leukoencephalopathy, dystonic head tremor, spasmodic torticollis and reduced tendon reflexes in lower extremities. Additional features include hyposmia, pathologic saccadic eye movements, a slight hypoacusis, accumulation of branched-chain pristanic acid in plasma, and the presence of abnormal bile alcohol glucuronides in urine.
rs2272221	chr7	83143687	84143687	SEMA3A	SEMA1|SemD|coll-1|Hsema-I	10723	ENSG00000075213	83585093	83824217	-	603961	308700	478	Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)	0012385;0001252;0011961;0000508;0009804;0001288;0000118;0000002;0001608;0000458;0000938;0008527;0006610;0003782;0003164;0001335;0002750;0000044;0001513;0000786;0002652;0001260;0008187;0001324;0000771;0000027;0000551;0000830;0008197;0001250;0004409;0000175;0001337;0000639;0000164;0000316;0000869;0003187;0000505;0100639;0002761;0000028;0000008;0030016;0000823;0000134;0008734;0000104;0000939;0005280;0030019;0008724;0010550;0008064;0000026;0000716;0004349;0001763;0000802;0030680;0000407;0000054;0000013;0008736;0000144;0002757;0002231;0000324;0000739;0001761;0040171;0001251	0090094;3614	Orphanet	NA	Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; 152760) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia.'
rs2272221	chr7	83143687	84143687	SEMA3A	SEMA1|SemD|coll-1|Hsema-I	10723	ENSG00000075213	83585093	83824217	-	603961	612838	130	Brugada syndrome 5	0004751;0002069;0001279;0011705;0004755;0001663;0011704;0011712;0001649;0002373;0002121;0010819;0011710;0001695;0012251;0004308;0011715	0050451;0110222	Orphanet	NA	Brugada syndrome is characterized by an ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts. The syndrome typically manifests during adulthood, with a mean age of sudden death of 41 +/- 15 years, but also occurs in infants and children (summary by Antzelevitch et al., 2005).
rs2272221	chr7	83143687	84143687	SEMA3A	SEMA1|SemD|coll-1|Hsema-I	10723	ENSG00000075213	83585093	83824217	-	603961	614897	NA	Hypogonadotropic hypogonadism 16 with or without anosmia	0000786;0000028;0000054;0025515;0000027;0000823;0008734	0090080	OMIM	https://www.omim.org/entry/614897	Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; 152760) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'
rs2272221	chr7	83143687	84143687	SEMA3A	SEMA1|SemD|coll-1|Hsema-I	10723	ENSG00000075213	83585093	83824217	-	603961	NA	NA	Sema3a-related skeletal dysplasia	NA	NA	Decipher	NA	NA
rs1057016	chr8	17387083	18387083	PDGFRL	PRLTS	8805	ENSG00000104213	17433942	17500642	+	604584	114500	NA	Colorectal cancer, somatic	0006753	9256	OMIM	https://www.omim.org/entry/114500	Colorectal cancer is a heterogeneous disease that is common in both men and women. In addition to lifestyle and environmental risk factors, gene defects can contribute to an inherited predisposition to CRC. CRC is caused by changes in different molecular pathogenic pathways, such as chromosomal instability, CpG island methylator phenotype, and microsatellite instability. Chromosome instability is the most common alteration and is present in almost 85% of all cases (review by Schweiger et al., 2013).
rs1057016	chr8	17387083	18387083	PDGFRL	PRLTS	8805	ENSG00000104213	17433942	17500642	+	604584	114550	NA	Hepatocellular carcinoma, somatic	0001428;0001425;0006572;0001413;0001402	684	OMIM	https://www.omim.org/entry/114550	Hepatocellular carcinoma is the major histologic type of malignant primary liver neoplasm. It is the fifth most common cancer and the third most common cause of death from cancer worldwide. The major risk factors for HCC are chronic hepatitis B virus (HBV) infection, chronic hepatitis C virus (HCV) infection, prolonged dietary aflatoxin exposure, alcoholic cirrhosis, and cirrhosis due to other causes. Hepatoblastomas comprise 1 to 2% of all malignant neoplasms of childhood, most often occurring in children under 3 years of age. Hepatoblastomas are thought to be derived from undifferentiated hepatocytes (Taniguchi et al., 2002).
rs1057016	chr8	17387083	18387083	PDGFRL	PRLTS	8805	ENSG00000104213	17433942	17500642	+	604584	NA	210159	Adult hepatocellular carcinoma	NA	0070328	Orphanet	NA	A rare carcinoma of the liver characterized by one to several or many nodules occurring anywhere within the liver, composed of neoplastic epithelial cells with hepatocellular differentiation. The vast majority of tumors are associated with chronic liver disease (such as hepatitis B or C, or steatohepatitis) or exposure to a variety of exogenous agents. Patients may present with signs and symptoms related to the tumor, as well as to the underlying condition. Common manifestations include right upper quadrant abdominal pain, weight loss, hepatosplenomegaly, jaundice, and ascites. Symptomatic tumors generally have poor prognosis.
rs1057016	chr8	17387083	18387083	PCM1	PTC4	8727	ENSG00000078674	17780349	17885477	+	600299	607464	146	Thyroid carcinoma, Hurthle cell	NA	8161	Orphanet	NA	Hurthle cell carcinoma of the thyroid accounts for approximately 3% of all thyroid cancers. Although they are classified as variants of follicular neoplasms, they are more often multifocal and somewhat more aggressive and are less likely to take up iodine than are other follicular neoplasms (Sanders and Silverman, 1998).
rs1057016	chr8	17387083	18387083	ASAH1	AC|PHP32|FLJ21558|ACDase	735	ENSG00000104763	17913934	17941879	-	613468	159950	2590	Spinal muscular atrophy with progressive myoclonic epilepsy	0032667;0008955;0001757;0030319;0002540;0001308;0002398;0001284;0003391;0002355;0002197;0002359;0200036;0002515;0000708;0010628;0001433;0001609;0001250;0012379;0002878;0001337;0002380;0011147;0025097;0002100;0007209;0003701;0002123;0002015;0001268;0002205;0002312;0045084;0002650;0002747;0002366;0001249;0010819;0001336;0000407;0007269;0032794;0004302;0025190;0000726;0007340;0003202;0001371	0111527	Decipher;Genomics England;OMIM;Orphanet	https://www.omim.org/entry/159950	An autosomal recessive neuromuscular disorder characterized by childhood onset of motor deficits and progressive myoclonic seizures, after normal developmental milestones. Proximal muscle weakness and generalized muscular atrophy are due to degeneration of spinal motor neurons. Myoclonic epilepsy is generally resistant to conventional therapy. The disease course is progressive and leads to respiratory muscle involvement and severe handicap or early death from respiratory insufficiency.
rs1057016	chr8	17387083	18387083	ASAH1	AC|PHP32|FLJ21558|ACDase	735	ENSG00000104763	17913934	17941879	-	613468	228000	333	Farber lipogranulomatosis	0025405;0007957;0001999;0001541;0007759;0002788;0001433;0001618;0001954;0009811;0002716;0000152;0002815;0001871;0008947;0001369;0001371;0001508;0025392;0001626;0001395;0001760;0005483;0000708;0000737;0002240;0001386;0011968;0003640;0012379;0007470;0001263;0001686;0001399;0010729;0002376;0001155;0025356;0025423;0006575;0002829;0001939;0003202;0040139;0012469;0001744;0001873;0000608;0001608;0002385;0001612;0001609;0006511;0002300;0000639;0009381;0001789;0003444;0001257;0000939;0000766;0001270;0002098;0001336;0000478;0002028;0001507;0002910;0001574;0012444;0000924;0001903;0003019;0000707;0100750;0025031;0000502;0002086;0001250;0002093;0001831;0002715;0001615;0001249;0004322;0011842;0002207	0050464	Decipher;Genomics England;OMIM;Orphanet	https://www.omim.org/entry/228000	Farber lipogranulomatosis is an autosomal recessive lysosomal storage disorder characterized by early-onset subcutaneous nodules, painful and progressively deformed joints, and hoarseness by laryngeal involvement. Based on the age of onset, the severity of symptoms, and the difference in organs affected, 6 clinical subtypes due to deficiency of acid ceramidase have been distinguished. The most severe form is subtype 4, a rare neonatal form of the disease with death occurring before 1 year of age (summary by Alves et al., 2013).
rs7035015	chr9	4442546	5442546	SLC1A1	EAAC1|EAAT3|hEAAC1	10939	ENSG00000106688	4490444	4587469	+	133550	222730	2195	Dicarboxylic aminoaciduria	0000787;0032401;0000722	0060650	Genomics England;OMIM;Orphanet	https://www.omim.org/entry/222730	Dicarboxylic aminoaciduria (DCBXA) is characterized by a striking excretion of urinary glutamate and aspartate, resulting from the incomplete reabsorption of anionic amino acids from the glomerular filtrate in the kidney. Patients may have impaired intellectual development (summary by Bailey et al., 2011).
rs7035015	chr9	4442546	5442546	SLC1A1	EAAC1|EAAT3|hEAAC1	10939	ENSG00000106688	4490444	4587469	+	133550	613340	166412	Epilepsy, hot water, 2	NA	0081107;0081104	Orphanet	NA	Hot water reflex epilepsy is a rare neurologic disease characterized by the onset of generalized or focal seizures following immersion of the head in hot water, or with hot water being poured over the head. Primary generalized tonic-clonic seizures have been reported in rare cases.
rs7035015	chr9	4442546	5442546	SLC1A1	EAAC1|EAAT3|hEAAC1	10939	ENSG00000106688	4490444	4587469	+	133550	615232	NA	Schizophrenia susceptibility 18	NA	0070093	OMIM	https://www.omim.org/entry/615232	A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder.
rs7035015	chr9	4442546	5442546	JAK2	JTK10	6192	ENSG00000096968	4985245	5128183	+	147796	133100	NA	Erythrocytosis, somatic	0001744;0000989;0002875;0001050;0002094;0001677;0001900;0001658;0000421;0001901;0002321;0001892;0011902;0012378;0001907;0002641;0002829;0012735;0001898;0000822;0002027;0001342;0004936;0002315;0001899	0060652	Genomics England;OMIM	https://www.omim.org/entry/133100	Familial erythrocytosis-1 (ECYT1) is an autosomal dominant disorder characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO (133170), and low serum levels of EPO. There is no increase in platelets or leukocytes and the disorder does not progress to leukemia (Kralovics et al., 1998).
rs7035015	chr9	4442546	5442546	JAK2	JTK10	6192	ENSG00000096968	4985245	5128183	+	147796	187950	71493	Thrombocythemia, somatic	0001744;0000989;0004420;0000975;0100659;0001123;0032147;0004866;0000978;0001658;0003010;0031388;0001260;0001279;0031387;0100785;0001250;0001824;0004950;0002092;0005506;0002326;0002863;0002321;0002637;0004808;0000505;0001892;0011974;0011875;0012378;0005561;0001872;0001894;0003401;0012143;0005513;0004936;0002488;0030243;0100749;0002076;0100576;0002315;0001974	2224	Orphanet	NA	Thrombocythemia, or thrombocytosis, is a myeloproliferative disorder characterized by excessive platelet production resulting in increased numbers of circulating platelets. Thrombocythemia can be associated with thrombotic or hemorrhagic episodes and occasional leukemic transformation (summary by Wiestner et al., 1998).
rs7035015	chr9	4442546	5442546	JAK2	JTK10	6192	ENSG00000096968	4985245	5128183	+	147796	254450	824	Myelofibrosis, somatic	0001744;0004420;0001873;0004326;0004447;0000979;0001977;0030057;0001903;0000967;0011134;0031364;0001433;0002240;0001409;0005547;0001028;0001428;0003388;0001892;0011974;0031020;0002039;0000980;0012378;0025435;0004377;0030157;0001894;0005561;0001945;0002716;0012143;0001871;0004936;0025142;0001876;0001978;0001974	4971	OMIM;Orphanet	https://www.omim.org/entry/254450	A rare myeloproliferative neoplasm characterized by stem-cell derived clonal over proliferation of mature myeloid lineages, such as erythrocytes, leukocytes, and megakaryocytes, with variable degrees of megakaryocyte atypia, associated with reticulin and/or collagen bone marrow fibrosis, osteosclerosis, ineffective erythropoiesis, angiogenesis, extramedullary hematopoiesis, and abnormal cytokine expression.
rs7035015	chr9	4442546	5442546	JAK2	JTK10	6192	ENSG00000096968	4985245	5128183	+	147796	263300	729	Polycythemia vera, somatic	0001744;0000989;0004420;0001873;0002639;0032147;0001677;0001900;0000978;0002204;0004417;0001297;0002239;0002240;0025722;0001824;0001409;0000421;0001901;0002863;0002321;0002093;0002637;0011974;0033842;0012378;0001894;0001907;0003401;0000504;0002829;0001898;0000822;0002027;0001681;0001342;0000225;0002488;0004936;0030243;0000360;0002315;0030242;0001974;0001899	8997	OMIM;Orphanet	https://www.omim.org/entry/263300	Polycythemia vera (PV), the most common form of primary polycythemia, is caused by somatic mutation in a single hematopoietic stem cell leading to clonal hematopoiesis. PV is a myeloproliferative disorder characterized predominantly by erythroid hyperplasia, but also by myeloid leukocytosis, thrombocytosis, and splenomegaly. Familial cases of PV are very rare and usually manifest in elderly patients (Cario, 2005). PV is distinct from the familial erythrocytoses (see, e.g., ECYT1, 133100), which are caused by inherited mutations resulting in hypersensitivity of erythroid progenitors to hormonal influences or increased levels of circulating hormones, namely erythropoietin (EPO; 133170) (Prchal, 2005).
rs7035015	chr9	4442546	5442546	JAK2	JTK10	6192	ENSG00000096968	4985245	5128183	+	147796	600880	131	Budd-Chiari syndrome, somatic	0001744;0005214;0005244;0001541;0002239;0002240;0001824;0002586;0001409;0006554;0000952;0002040;0001945;0001082;0001402;0002027;0001394;0002024;0002910	11512	OMIM;Orphanet	https://www.omim.org/entry/600880	A syndrome caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava. Obstructions are generally caused by thrombosis and lead to hepatic congestion and ischemic necrosis. Clinical manifestations observed in the majority of patients include hepatomegaly, right upper quadrant pain and abdominal ascites. Budd-Chiari syndrome is associated with a combination of disease states including primary myeloproliferative syndromes and thrombophilia due to factor V Leiden, protein C deficiency and antithrombin III deficiency. Budd-Chiari syndrome is a rare but typical complication in patients with polycythemia vera.
rs7035015	chr9	4442546	5442546	JAK2	JTK10	6192	ENSG00000096968	4985245	5128183	+	147796	601626	NA	Leukemia, acute myeloid	0001428;0004808	9119	OMIM	https://www.omim.org/entry/601626	 A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.
rs7035015	chr9	4442546	5442546	JAK2	JTK10	6192	ENSG00000096968	4985245	5128183	+	147796	614521	NA	Thrombocythemia 3	0001428;0001894;0031386	2224	Genomics England;OMIM	https://www.omim.org/entry/614521	Thrombocythemia-3 is an autosomal dominant hematologic disorder characterized by increased platelet production resulting in increased numbers of circulating platelets. Thrombocythemia can be associated with thrombotic episodes, such as cerebrovascular events or myocardial infarction (summary by Mead et al., 2012).
rs7020567	chr9	19448536	20448536	MLLT3	AF-9|AF9|YEATS3	7136	ENSG00000171843	20341663	20622542	-	159558	NA	402017	Acute myeloid leukemia with t(9;11)(p22;q23)	NA	NA	Orphanet	NA	A tumor of hematopoietic and lymphoid tissues characterized by the most common AML-causing MLL translocation, resulting in the MLL-MLLT3-fusion protein. It can occur either as a primary neoplasm or secondary to previous chemo-/radiation therapy. Clinical manifestations result from accumulation of malignant myeloid cells within the bone marrow, peripheral blood and other organs and include leukocytosis, anemia, thrombocytopenia, fever, bone pain, fatigue, pallor, easy bruising and frequent bleeding.
rs426632	chr9	118496950	119496950	TRIM32	HT2A|TATIP|BBS11	16380	ENSG00000119401	119449581	119463577	+	602290	209900	NA	Bardet-Biedl syndrome 1	0010867;0000556;0000256;0001159;0001007;0001395;0000510;0000365;0002099;0000819;0001513;0002141;0001829;0000678;0001773;0000545;0009806;0007707;0000218;0000639;0009466;0000135;0000316;0000668;0001080;0000501;0001712;0001263;0000483;0000486;0002370;0008734;0010442;0000546;0002251;0000137;0001249;0000077;0000822;0000054;0003241;0002167;0000148;0001162;0001156;0000750;0000518;0001328;0001251	0110123	Genomics England	NA	A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.
rs426632	chr9	118496950	119496950	TRIM32	HT2A|TATIP|BBS11	16380	ENSG00000119401	119449581	119463577	+	602290	254110	1878	Muscular dystrophy, limb-girdle, autosomal recessive 8	0030319;0003707;0001288;0001284;0003457;0003391;0000298;0003236;0000098;0003557;0003722;0003458;0002515;0010628;0001315;0003731;0003560;0008994;0007209;0008988;0003738;0003687;0003749;0003724;0003691;0003547;0003198;0001265	0110282	Decipher;Genomics England;OMIM;Orphanet	https://www.omim.org/entry/254110	A mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement.
rs426632	chr9	118496950	119496950	TRIM32	HT2A|TATIP|BBS11	16380	ENSG00000119401	119449581	119463577	+	602290	615988	NA	Bardet-Biedl syndrome 11	0000556;0000256;0001159;0001007;0001395;0000510;0000365;0002099;0000819;0001513;0002141;0001829;0000678;0001773;0000545;0009806;0007707;0000218;0000639;0009466;0000135;0000668;0001080;0000501;0001712;0001263;0000483;0000486;0002370;0008734;0010442;0002251;0000137;0001249;0000077;0000488;0000822;0000054;0002167;0000148;0001162;0000479;0001156;0000750;0000518;0001328;0001251	0110133	Decipher;OMIM	https://www.omim.org/entry/615988	A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.
rs426632	chr9	118496950	119496950	TRIM32	HT2A|TATIP|BBS11	16380	ENSG00000119401	119449581	119463577	+	602290	615996	110	Bardet-Biedl syndrome 19	;0000400;0001388;0000678;0000618;0000135;0000083;0012622;0002608;0001627;0010442;0001638;0000822;0002167;0003233;0001156;0005978;0002037;0011026;0001395;0000510;0030010;0000365;0000708;0008376;0000163;0004409;0012758;0010747;0000028;0100543;0008734;0008724;0000011;0002251;0000613;0000278;0003241;0000388;0000126;0001397;0012384;0000858;0003202;0005769;0000662;0000750;0000486;0000518;0000556;0004408;0007663;0000494;0000470;0001513;0025691;0000551;0000076;0002155;0000218;0000668;0000639;0005562;0000483;0000855;0000100;0001257;0006101;0000712;0100259;0000085;0000426;0000368;0000739;0002910;0000818;0001328;0001251;0000512;0011024;0001159;0000821;0000548;0002099;0002230;0001250;0000316;0000343;0005280;0008915;0000717;0001249;0000716;0000736;0000691;0008736;0000789;0001762;0000147;0004322;0000119	1935;0110141	Orphanet	NA	A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.
rs61611140	chr10	2702988	3702988	PITRM1	MP1|KIAA1104|hMP1|PreP	17663	ENSG00000107959	3179922	3215003	-	618211	619405	NA	Spinocerebellar ataxia, autosomal recessive 30	0002151;0001249;0000738;0000725;0031936;0002317;0001263;0001310;0100543;0001268;0001337;0003236;0000750;0001251	0070411	Genomics England;OMIM	https://www.omim.org/entry/619405	Autosomal recessive spinocerebellar ataxia-30 (SCAR30) is a progressive neurologic disorder characterized by childhood-onset global developmental delay with variably impaired intellectual development, motor dysfunction, and cerebellar ataxia. Affected individuals may also have psychiatric abnormalities, such as obsessive behavior, psychotic episodes, or hallucinations. Brain imaging usually shows cerebellar atrophy, although this may be an age-dependent feature (summary by Langer et al., 2018).
rs632052	chr11	57194319	58194319	SERPING1	C1IN|C1-INH|HAE1|HAE2|C1INH	1228	ENSG00000149131	57364991	57382326	+	606860	106100	100050	Angioedema, hereditary, 1 and 2	0002094;0002018;0002014;0100755;0005483;0005348;0001025;0001609;0000172;0002615;0005225;0012027;0002013;0002015;0003401;0011971;0025349;0011855;0040315;0007514;0002098;0100736;0012252;0001939;0002027;0000282	0080939	Genomics England;OMIM;Orphanet	https://www.omim.org/entry/106100	Hereditary angioedema-1 and -2 (HAE1 and HAE2) refer to disorders caused by mutation in the SERPING1 (C1HN) gene. The disorders are clinically indistinguishable: both are characterized by episodic local subcutaneous edema and submucosal edema involving the upper respiratory and gastrointestinal tracts. HAE1, representing 85% of patients, is characterized by serum levels of C1NH less than 35% of normal (Cicardi and Agostoni, 1996; Bowen et al., 2001). HAE2 is characterized by normal or even elevated C1NH levels, but the protein is nonfunctional.
rs632052	chr11	57194319	58194319	SERPING1	C1IN|C1-INH|HAE1|HAE2|C1INH	1228	ENSG00000149131	57364991	57382326	+	606860	120790	NA	Complement component 4, partial deficiency of	0002725	NA	Genomics England;OMIM	https://www.omim.org/entry/120790	NA
rs632052	chr11	57194319	58194319	CLP1	HEAB|hClp1	16999	ENSG00000172409	57424630	57429340	+	608757	615803	411493	Pontocerebellar hypoplasia, type 10	;0000253;0000687;0008453;0007141;0002194;0002059;0001276;0000431;0025405;0010862;0000565;0003196;0000637;0001510;0000737;0001250;0002500;0000527;0000430;0012448;0000218;0000639;0002120;0000817;0002421;0000505;0000219;0001263;0000028;0000486;0002553;0001257;0009879;0002363;0002119;0001249;0001290;0002538;0001298;0002079;0000520;0032012;0001347;0001344;0000750;0002751;0000648	0060279	Decipher;Genomics England;OMIM;Orphanet	https://www.omim.org/entry/615803	A rare, genetic, pontocerebellar hypoplasia subtype characterized by severe psychomotor developmental delay, progressive microcephaly, progressive spasticity, seizures, and brain abnormalities consisting of mild atrophy of the cerebellum, pons and corpus callosum and cortical atrophy with delayed myelination. Patients may present dysmorphic facial features (high arched eyebrows, prominent eyes, long palpebral fissures and eyelashes, broad nasal root, and hypoplastic alae nasi) and an axonal sensorimotor neuropathy.
rs632052	chr11	57194319	58194319	TMX2	PDIA12	30739	ENSG00000213593	57480079	57508445	+	616715	618730	NA	Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity	0002540;0002059;0032410;0000252;0002355;0002365;0007359;0002197;0001339;0007227;0001302;0001272;0002510;0001263;0001257;0002119;0001249;0032794;0008936;0002079;0001347	NA	Genomics England;OMIM	https://www.omim.org/entry/618730	Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity (NEDMCMS) is an autosomal recessive disorder characterized by severe to profound global developmental delay, early-onset seizures, microcephaly, and polymicrogyria and/or cerebral atrophy on brain imaging. Most affected individuals are unable to walk or speak and have profoundly impaired intellectual development, as well as axial hypotonia and peripheral spasticity. Rare individuals may be less severely affected (summary by Vandervore et al., 2019).
rs632052	chr11	57194319	58194319	TMX2	PDIA12	30739	ENSG00000213593	57480079	57508445	+	616715	NA	NA	Primary microcephaly, cortical malformation and epileptic encephalopathy	0011451;0001298;0012444;0002133;0002126	NA	Decipher	NA	NA
rs632052	chr11	57194319	58194319	CTNND1	KIAA0384|p120|p120cas|p120ctn	2515	ENSG00000198561	57520715	57587018	+	601045	119580	1997	Blepharocheilodontic syndrome 1	0000405;0007651;0040019;0001792;0012905;0012368;0008070;0002023;0008496;0011362;0012725;0000453;0000668;0000348;0000316;0000492;0200040;0009890;0000670;0000504;0030084;0006101;0045005;0002744;0000698;0009743;0000478	0080345	Orphanet	NA	A form of blepharocheilodontic syndrome, a rare autosomal dominant disorder. It is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and features of ectodermal dysplasia, including hair anomalies, conical teeth and tooth agenesis. An additional rare manifestation is imperforate anus. There is considerable phenotypic variability among affected individuals.
rs632052	chr11	57194319	58194319	CTNND1	KIAA0384|p120|p120cas|p120ctn	2515	ENSG00000198561	57520715	57587018	+	601045	617681	NA	Blepharocheilodontic syndrome 2	0008496;0006342;0007651;0009804;0000698;0009743;0012725;0000324;0000348;0012905;0012368;0000316;0000674	0080346	OMIM	https://www.omim.org/entry/617681	A form of blepharocheilodontic syndrome, a rare autosomal dominant disorder. It is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and features of ectodermal dysplasia, including hair anomalies, conical teeth and tooth agenesis. An additional rare manifestation is imperforate anus. There is considerable phenotypic variability among affected individuals.
rs632052	chr11	57194319	58194319	CTNND1	KIAA0384|p120|p120cas|p120ctn	2515	ENSG00000198561	57520715	57587018	+	601045	NA	NA	Blepharo-cheiro-dontic syndrome	0100336;0009755;0000696;0000316	NA	Decipher	NA	NA
rs630671	chr11	60205837	61205837	MS4A1	B1|Bp35|FMC7	7315	ENSG00000156738	60223282	60238225	+	112210	146830	1572	Immune deficiency, familial variable	0001744;0002633;0002110;0000979;0006783;0001392;0002665;0001973;0001888;0004313;0002023;0001531;0000389;0000248;0002097;0002719;0002720;0004315;0002090;0002205;0002721;0100723;0002716;0002829;0002091;0000388;0002910;0002837;0001878	12177	Orphanet	NA	Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria.
rs630671	chr11	60205837	61205837	MS4A1	B1|Bp35|FMC7	7315	ENSG00000156738	60223282	60238225	+	112210	613495	NA	Immunodeficiency, common variable, 5	0004313;0002718;0002205	12177;0081148	Genomics England;OMIM	https://www.omim.org/entry/613495	A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can be low.
rs630671	chr11	60205837	61205837	ZP1	ZPB1	13187	ENSG00000149506	60635035	60643166	+	195000	615774	NA	Oocyte/zygote/embryo maturation arrest 1	0000789;0008222	NA	OMIM	https://www.omim.org/entry/615774	Female infertility often results from problems connected to producing eggs. Oocyte maturation is a complex process that includes meiotic division and recombination, nuclear maturation, and epigenetic modification. Each stage of this process is regulated by a large network of genes. Pathogenic variants in these genes can result in the recurrent failures of in vitro fertilization (IVF)/intracytoplasmic sperm injection (ICSI) programs due to a poor response to ovarian stimulation, oocyte maturation arrest, poor quality of gametes, fertilization failure, or early embryonic development arrest (Solovova and Chernykh, 2022).
rs630671	chr11	60205837	61205837	ZP1	ZPB1	13187	ENSG00000149506	60635035	60643166	+	195000	618353	404466	Oocyte/zygote/embryo maturation arrest 6	0020157	NA	Orphanet	NA	Female infertility due to zona pellucida defect is a rare, genetic, female infertility disorder characterized by the presence of abnormal oocytes that lack a zona pellucida. Affected individuals are unable to conceive despite having normal menstrual cycles and sex hormone levels, as well as no obstructions in the fallopian tubes or defects of the uterus or adnexa.
rs630671	chr11	60205837	61205837	DDB1	NA	2717	ENSG00000167986	61066923	61100838	-	600045	619426	NA	White-Kernohan syndrome	0001252;0000664;0000490;0009623;0001999;0001007;0000470;0002020;0003196;0000365;0004320;0000637;0001388;0001513;0011800;0031936;0000076;0000582;0000430;0012725;0012745;0000639;0000293;0001263;0000750;0000369;0011228;0002265;0005280;0002119;0001249;0030084;0001290;0000286;0000278;0000085;0000126;0000506;0032012;0000813;0001156;0000486;0001545	NA	OMIM	https://www.omim.org/entry/619426	White-Kernohan syndrome (WHIKERS) is a neurodevelopmental disorder characterized by global developmental delay with variably impaired intellectual development, hypotonia, and characteristic facial features. Some patients may have abnormalities of other systems, including genitourinary and skeletal (summary by White et al., 2021).
rs630671	chr11	60205837	61205837	DDB1	NA	2717	ENSG00000167986	61066923	61100838	-	600045	NA	NA	Ddb1-associated neurodevelopmental syndrome	NA	NA	Decipher	NA	NA
rs630671	chr11	60205837	61205837	TKFC	DKFZP586B1621|NET45	24552	ENSG00000149476	61100682	61116714	+	615844	212350	1369	Sengers syndrome	0001131;0001252;0000512;0001873;0001639;0001510;0001324;0003128;0000545;0002878;0000519;0000639;0002093;0000501;0002151;0003388;0003535;0003737;0012378;0010444;0003546;0001270;0004901;0001290;0032012;0003198;0000486;0000518	0080335;0080132	Orphanet	NA	Sengers syndrome is an autosomal recessive mitochondrial disorder characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis. Mental development is normal, but affected individuals may die early from cardiomyopathy (summary by Mayr et al., 2012). Skeletal muscle biopsies of 2 affected individuals showed severe mtDNA depletion (Calvo et al., 2012).
rs630671	chr11	60205837	61205837	TKFC	DKFZP586B1621|NET45	24552	ENSG00000149476	61100682	61116714	+	615844	618805	NA	Triokinase and FMN cyclase deficiency syndrome	0001644;0002136;0001263;0001321;0000750;0002240;0001270;0001733;0003128;0001410;0000519;0001935;0002910;0003073;0000568;0001328;0001508	NA	Genomics England;OMIM	https://www.omim.org/entry/618805	Triokinase and FMN cyclase deficiency syndrome (TKFCD) is a multisystem disease with marked clinical variability, even intrafamilially. In addition to cataract and developmental delay of variable severity, other features may include liver dysfunction, microcytic anemia, and cerebellar hypoplasia. Fatal cardiomyopathy with lactic acidosis has been observed (Wortmann et al., 2020).
rs630671	chr11	60205837	61205837	TKFC	DKFZP586B1621|NET45	24552	ENSG00000149476	61100682	61116714	+	615844	NA	NA	Tkfc-related cataracts and multisystem disease	NA	NA	Decipher	NA	NA
rs630671	chr11	60205837	61205837	TMEM138	HSPC196|JBTS16	26944	ENSG00000149483	61129473	61136981	+	614459	243910	2318	Arima syndrome	0001161;0010867;0000556;0000508;0001252;0000864;0000567;0002198;0002269;0001395;0000729;0006887;0002789;0000708;0006817;0000090;0010864;0001829;0000238;0001250;0002240;0000496;0000618;0004422;0000639;0000083;0007370;0002508;0002436;0000505;0001263;0000480;0002553;0002084;0000113;0000276;0025356;0000154;0002419;0000550;0002650;0000092;0002251;0001249;0030680;0001290;0000463;0001397;0100259;0008659;0000112;0000426;0000612;0002104;0000368;0001320;0000486;0001251	NA	Orphanet	NA	Arima syndrome is an autosomal recessive disorder characterized by agenesis of the cerebellar vermis, ocular abnormalities, cystic kidney disease, and, in some cases, liver disease. It shares phenotypic features with Joubert syndrome (see 213300), COACH syndrome (216360), and familial juvenile nephronophthisis (see 256100).
rs630671	chr11	60205837	61205837	TMEM138	HSPC196|JBTS16	26944	ENSG00000149483	61129473	61136981	+	614459	614465	NA	Joubert syndrome 16	;0000556;0000107;0000090;0001305;0000589;0002084;0008659;0011815;0010442;0002419;0000657	0110985	Decipher;Genomics England;OMIM	https://www.omim.org/entry/614465	An autosomal recessive disorder characterized by oculomotor apraxia, variable coloboma, and rare kidney involvement. Neuroradiologically, it is characterized by an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and polydactyly.
rs630671	chr11	60205837	61205837	TMEM216	MGC13379|HSPC244|JBTS2	25018	ENSG00000187049	61159159	61166320	+	613277	243910	2318	Arima syndrome	0001161;0010867;0000556;0000508;0001252;0000864;0000567;0002198;0002269;0001395;0000729;0006887;0002789;0000708;0006817;0000090;0010864;0001829;0000238;0001250;0002240;0000496;0000618;0004422;0000639;0000083;0007370;0002508;0002436;0000505;0001263;0000480;0002553;0002084;0000113;0000276;0025356;0000154;0002419;0000550;0002650;0000092;0002251;0001249;0030680;0001290;0000463;0001397;0100259;0008659;0000112;0000426;0000612;0002104;0000368;0001320;0000486;0001251	NA	Orphanet	NA	Arima syndrome is an autosomal recessive disorder characterized by agenesis of the cerebellar vermis, ocular abnormalities, cystic kidney disease, and, in some cases, liver disease. It shares phenotypic features with Joubert syndrome (see 213300), COACH syndrome (216360), and familial juvenile nephronophthisis (see 256100).
rs630671	chr11	60205837	61205837	TMEM216	MGC13379|HSPC244|JBTS2	25018	ENSG00000187049	61159159	61166320	+	613277	300804	2754	Joubert syndrome 10	0002404;0001252;0000565;0002187;0002788;0010864;0010806;0000175;0011802;0001627;0002090;0000104;0000154;0010442;0008689;0009084;0000286;0008872;0100258;0008678;0001374;0001156;0100260;0002444;0001508;0000180;0000003;0006801;0001288;0040019;0001007;0000510;0003196;0000455;0001829;0000023;0007370;0000347;0000219;0001263;0000276;0000199;0002280;0000556;0001355;0000256;0007036;0000494;0000268;0000470;0000358;0001547;0000280;0000474;0000954;0000218;0004422;0009466;0000639;0001182;0009381;0000190;0002553;0002876;0000369;0002419;0001290;0000054;0006145;0000463;0100259;0012471;0000426;0002104;0000368;0001251;0001161;0002007;0000405;0000431;0001159;0002269;0006610;0001792;0006887;0001510;0001250;0001337;0000316;0000996;0000445;0002002;0002719;0001249;0001762;0004322;0001320;0001169	0060376;0110981	Orphanet	NA	A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease.
rs630671	chr11	60205837	61205837	TMEM216	MGC13379|HSPC244|JBTS2	25018	ENSG00000187049	61159159	61166320	+	613277	603194	NA	Meckel syndrome 2	0006487;0001511;0002323;0001305;0100259;0002435;0002085;0000175;0001408;0000568	0070116	Genomics England;OMIM	https://www.omim.org/entry/603194	Meckel syndrome is a rare autosomal recessive lethal condition characterized by an occipital meningoencephalocele, enlarged kidneys with multicystic dysplasia and fibrotic changes in the portal area of the liver and with ductal proliferation, and postaxial polydactyly.
rs630671	chr11	60205837	61205837	TMEM216	MGC13379|HSPC244|JBTS2	25018	ENSG00000187049	61159159	61166320	+	613277	608091	NA	Joubert syndrome 2	0002404;0010867;0000556;0002007;0001252;0001355;0000256;0001273;0000567;0011933;0100951;0002335;0002365;0000565;0000268;0002195;0001760;0002871;0002789;0000570;0000090;0000238;0000588;0000218;0002790;0000639;0000316;0002508;0000657;0001508;0000505;0010536;0000050;0001263;0000480;0000107;0001425;0002876;0000369;0012211;0002084;0007772;0002419;0011815;0005280;0001249;0001290;0100259;0008659;0001162;0000568;0001251	0110988	Decipher;Genomics England;OMIM	https://www.omim.org/entry/608091	Joubert syndrome is a genetically heterogeneous autosomal recessive disorder characterized by a specific hindbrain malformation, which is referred to as the 'molar tooth sign' (MTS) on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities. The complex brainstem malformation consists of cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (Maria et al., 1997). Additional features sometimes associated with Joubert syndrome include retinal anomalies, polydactyly, hepatic fibrosis, and renal disease. These related disorders are often referred to as 'cerebellooculorenal syndromes' (CORSs) (Chance et al., 1999; Satran et al., 1999).
rs630671	chr11	60205837	61205837	TMEM216	MGC13379|HSPC244|JBTS2	25018	ENSG00000187049	61159159	61166320	+	613277	609345	564	Cerebrorenodigital syndrome with limb malformations and triradiate acetabula	0001746;0006487;0001883;0002612;0000003;0000532;0001747;0000252;0000457;0001737;0000073;0006870;0002323;0001177;0001305;0000238;0001830;0000175;0000037;0010295;0000340;0000316;0100732;0006706;0007370;0000347;0001562;0000293;0000028;0002084;0008053;0000482;0010459;0030680;0000647;0000528;0000068;0001162;0001696;0000368;0000062;0000221;0000518;0000568;0000648	0050778	Orphanet	NA	A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.
rs630671	chr11	60205837	61205837	SDHAF2	FLJ20487|SDH5	26034	ENSG00000167985	61197545	61215001	+	613019	601650	NA	Pheochromocytoma/paraganglioma syndrome 2	0001605;0002886;0002864;0001686;0003001;0001609;0030074;0002668;0008629;0006715	0050773	Genomics England;OMIM	https://www.omim.org/entry/601650	Pheochromocytoma/paraganglioma syndrome-2 (PPGL2) is an autosomal dominant disorder characterized by the development of neuroendocrine tumors, usually in adulthood. Paragangliomas are tumors derived from paraganglia located throughout the body. Nonchromaffin types primarily serve as chemoreceptors and are located in the head and neck region (i.e., carotid body, jugular, vagal, and tympanic regions), whereas chromaffin types have endocrine activity, conventionally referred to as 'pheochromocytomas,' and are usually located below the head and neck (i.e., adrenal medulla and pre- and paravertebral thoracoabdominal regions). PPGL can manifest as nonchromaffin head and neck tumors only, adrenal and/or extraadrenal pheochromocytomas only, or a combination of the 2 types of tumors (Baysal, 2002; Neumann et al., 2004).
rs630671	chr11	60205837	61205837	SDHAF2	FLJ20487|SDH5	26034	ENSG00000167985	61197545	61215001	+	613019	618464	29072	Pheochromocytoma/paraganglioma syndrome 6	0001635;0005584;0000405;0002018;0001293;0002574;0001095;0003072;0000096;0012222;0000740;0025269;0011979;0001824;0001618;0001337;0006748;0009711;0001069;0001962;0002864;0006737;0000980;0012378;0000093;0008629;0003639;0010532;0000526;0003574;0001605;0003345;0000790;0002640;0000822;0031284;0001342;0002331;0011703;0002668;0100749;0003528	NA	Orphanet	NA	A rare, hereditary, pheochromocytoma/paraganglioma tumor arising from neuroendocrine chromaffin cells of the adrenal medulla (pheochromocytoma) or from any paraganglia from the skull base to the pelvic floor (paraganglioma). Clinical manifestations are often linked to excess catecholamines production causing sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, palpitations, pallor and apprehension or anxiety. Hereditary pheochromocytoma/paraganglioma tumors tend to present at younger ages, to be multi-focal, bilateral, and recurrent, or to have multiple synchronous neoplasms.
rs2287463	chr12	30755654	31755654	IPO8	IMP8	9853	ENSG00000133704	30781922	30848920	-	605600	613795	60030	Loeys-Dietz syndrome 3	0012385;0001653;0001363;0001065;0000592;0000767;0000202;0000978;0100775;0000963;0000098;0001642;0001166;0001388;0000193;0008843;0100645;0000689;0001519;0002647;0005294;0000977;0000023;0000175;0003179;0005692;0010886;0000218;0000316;0000347;0001712;0001892;0008419;0001643;0003302;0000768;0000272;0000987;0000939;0002617;0000139;0001373;0000766;0001659;0002650;0100490;0005116;0004955;0100718;0001763;0004942;0001537;0001695;0002619;0005110;0001075;0001009;0001634;0005086	0050466;0070237	Orphanet	NA	Loeys-Dietz syndrome-3 (LDS3) is an autosomal dominant disorder characterized by arterial aneurysms and tortuosity, mild craniofacial features, and osteoarthritis at a young age. Aneurysms occur throughout the arterial tree, with a high risk of early dissection or rupture. Other cardiovascular anomalies include ventricular hypertrophy, atrial fibrillation, and congenital heart malformations. Most patients have osteoarthritis by the fourth decade of life, usually affecting the spine, hands and/or wrists, and knees. Intervertebral disc degeneration involving the cervical and lumbar discs is present in most patients. Craniofacial abnormalities include high forehead, hypertelorism, long face, flat supraorbital ridges, malar hypoplasia, and uvular abnormalities (summary by van de Laar et al., 2012).
rs2287463	chr12	30755654	31755654	IPO8	IMP8	9853	ENSG00000133704	30781922	30848920	-	605600	619472	NA	VISS syndrome	0002108;0001252;0002007;0000508;0003193;0004937;0000767;0001629;0001999;0000252;0000978;0001047;0000072;0000268;0002020;0001382;0005133;0001166;0001388;0002099;0000193;0002028;0000976;0012647;0001631;0001519;0011968;0000545;0031869;0002092;0000023;0000175;0000218;0000248;0010809;0004970;0000316;0007394;0000347;0002097;0001263;0001643;0002376;0001667;0002608;0032061;0000768;0005112;0001373;0410323;0002650;0001270;0000964;0004944;0001763;0000278;0100310;0001537;0000126;0001762;0007879;0000520;0000541;0002566;0005302;0000776;0003212;0001634;0000750;0001719;0001508	NA	OMIM	https://www.omim.org/entry/619472	VISS syndrome is a generalized connective tissue disorder characterized by early-onset thoracic aortic aneurysm and other connective tissue findings, such as aneurysm and tortuosity of other arteries, joint hypermobility, skin laxity, and hernias, as well as craniofacial dysmorphic features, structural cardiac defects, skeletal anomalies, and motor developmental delay (Van Gucht et al., 2021). Immune dysregulation has been observed in some patients (Ziegler et al., 2021).
rs2287463	chr12	30755654	31755654	IPO8	IMP8	9853	ENSG00000133704	30781922	30848920	-	605600	NA	NA	Ipo8-related syndromic thoracic aortic aneurysm	NA	NA	Decipher	NA	NA
rs2287463	chr12	30755654	31755654	DDX11	ChlR1|KRG-2|CHL1|WABS	2736	ENSG00000013573	31226779	31256877	+	601150	613398	280558	Warsaw breakage syndrome	0001252;0004691;0001629;0000252;0000365;0000965;0000378;0008586;0000274;0000954;0000588;0000218;0000340;0001263;0004209;0025356;0000154;0001249;0001636;0000407;0001290;0001511;0000286	0060535	Decipher;Genomics England;OMIM;Orphanet	https://www.omim.org/entry/613398	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by pre- and postnatal growth restriction, microcephaly, mild to severe intellectual disability, sensorineural hearing loss with cochlear abnormalities, and facial dysmorphism (with small and elongated face, bifrontal narrowing, epicanthus, short nose, small nares, dysplastic ears, and short neck). Additional variable features include limb malformations, cardiac anomalies, abnormal skin pigmentation, and recurrent infections, among others.
rs1831224	chr13	78415735	79415735	EDNRB	ETB	3180	ENSG00000136160	78469624	78492945	-	131244	277580	NA	Waardenburg syndrome, type 4A	0002226;0200064;0000407;0002211;0002227;0001100;0001053;0002216;0002251	0110953	Genomics England;OMIM	https://www.omim.org/entry/277580	Waardenburg syndrome type 4 (WS4), also known as Waardenburg-Shah syndrome, is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010). WS type 4A is caused by mutation in the EDNRB gene (131244).
rs1831224	chr13	78415735	79415735	EDNRB	ETB	3180	ENSG00000136160	78469624	78492945	-	131244	600155	NA	Hirschsprung disease, susceptibility to, 2	0002251	NA	Genomics England;OMIM	https://www.omim.org/entry/600155	The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008).
rs1831224	chr13	78415735	79415735	EDNRB	ETB	3180	ENSG00000136160	78469624	78492945	-	131244	600501	NA	ABCD syndrome	0002226;0006958;0001022;0002227;0007894;0001520;0008619;0008513;0000365;0002251	0050600	Decipher;Genomics England;OMIM	https://www.omim.org/entry/600501	An autosomal recessive syndrome characterized by albinism, black lock at temporal occipital region, bilateral deafness, aganglionosis of the large intestine and total absence of neurocytes and nerve fibers in the small intestine.
rs1831224	chr13	78415735	79415735	EDNRB	ETB	3180	ENSG00000136160	78469624	78492945	-	131244	606662	895	Waardenburg syndrome, type 2c	0000405;0000508;0005214;0011024;0000664;0000431;0001999;0004414;0000365;0000632;0002211;0000430;0001053;0000534;0000142;0001000;0000271;0002475;0002216;0000504;0002251;0100811;0000130;0000077;0000407;0000506;0001100;0000153;0000426;0005599;0000478;0000159;0000202	0110951;9258	Orphanet	NA	Waardenburg syndrome type II (WS2) is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the inner canthus of each eye, which is seen in some other forms of WS (Selicorni et al., 2002). WS type 2C (WS2C) maps to chromosome 8p. Waardenburg syndrome type 2 is genetically heterogeneous (see WS2A; 193510).
rs1831224	chr13	78415735	79415735	EDNRB	ETB	3180	ENSG00000136160	78469624	78492945	-	131244	611644	388	Hirschsprung disease, susceptibility to, 9	0002017;0001531;0001181;0001249;0005214;0100806;0000407;0002027;0012719;0200008;0002019;0001824;0004322;0100031;0002014;0002251	10487	Orphanet	NA	The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008).
rs1831224	chr13	78415735	79415735	EDNRB	ETB	3180	ENSG00000136160	78469624	78492945	-	131244	613266	897	Waardenburg syndrome, type 4C	0000366;0005214;0007703;0000664;0002019;0000431;0000458;0000365;0002226;0200064;0002211;0000430;0000135;0001053;0000534;0007732;0001341;0000028;0002227;0001425;0002242;0000504;0002216;0002251;0000407;0002027;0000506;0001103;0001100;0000426;0005599;0000478	0110955	Orphanet	NA	Waardenburg syndrome type 4 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the eye, deafness, and Hirschsprung disease (review by Read and Newton, 1997). WS type 4C is caused by mutation in the SOX10 gene (602229). WS type 4 is genetically heterogeneous (see WS4A; 277580).
rs1831224	chr13	78415735	79415735	EDNRB	ETB	3180	ENSG00000136160	78469624	78492945	-	131244	NA	NA	Waardenburg syndrome type iv	0001252;0001574;0002415;0003011;0000707;0025031;0002226;0002211;0000639;0001053;0000598;0001263;0002227;0000635;0001271;0002216;0002251;0000152;0000407;0002271;0001100;0002313;0000478;0001251	NA	Decipher	NA	NA
rs1831224	chr13	78415735	79415735	EDNRB	ETB	3180	ENSG00000136160	78469624	78492945	-	131244	NA	NA	Waardenburg syndrome type iv (biallelic, loss of function)	0001252;0001574;0002415;0003011;0000707;0025031;0002226;0002211;0000639;0001053;0000598;0001263;0002227;0000635;0001271;0002216;0002251;0000152;0000407;0002271;0001100;0002313;0000478;0001251	NA	Decipher	NA	NA
rs1831224	chr13	78415735	79415735	POU4F1	RDC-1	9218	ENSG00000152192	79172497	79177673	-	601632	614756	314647	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	0010867;0001252;0007256;0002019;0000490;0000431;0000256;0002003;0001999;0002059;0410170;0012433;0400005;0000494;0000729;0002020;0001348;0000307;0001260;0000179;0031936;0001250;0011968;0000337;0001310;0002500;0012448;0001256;0100540;0001337;0000718;0011166;0000639;0002403;0002120;0000316;0000411;0000347;0000445;0011448;0000343;0000160;0001263;0000486;0003487;0000369;0000276;0002470;0025517;0002015;0000752;0001319;0001332;0001257;0002317;0000414;0001249;0001336;0001290;0011067;0001321;0000463;0000722;0032012;0001347;0000473;0002536;0002080;0002354;0000739;0000750;0006919;0001251	0050998	Orphanet	NA	Cerebellar dysfunction with variable cognitive and behavioral abnormalities (CECBA) is an autosomal dominant neurologic disorder with significant phenotypic heterogeneity, even within families. The disorder is most often diagnosed through genetic analysis with retrospective clinical phenotyping. Symptom onset is usually in early childhood, although later onset, even in adulthood, has been reported. Most affected individuals show global developmental delay from early childhood, particularly of motor and language skills. Many have mild intellectual disability; behavioral and psychiatric abnormalities such as autism and obsessive-compulsive disorder are also often observed. The movement disorder is prominent and may include cerebellar signs such as ataxia, tremor, dysmetria, poor coordination, and dysarthria. Other abnormal movements including spasticity, myoclonus, and dystonia have been reported, thus widening the phenotypic spectrum. Brain imaging is usually normal, but may show cerebellar atrophy or nonspecific white matter lesions. Variable dysmorphic facial features may also be present (summary by Thevenon et al., 2012; Jacobs et al., 2021; Wijnen et al., 2020).
rs1831224	chr13	78415735	79415735	POU4F1	RDC-1	9218	ENSG00000152192	79172497	79177673	-	601632	619352	NA	Ataxia, intention tremor, and hypotonia syndrome, childhood-onset	;0001252;0000565;0002345;0001260;0002066;0031936;0000496;0001310;0011098;0000639;0001263;0000750;0002370;0001249;0001290;0032012;0002080;0000486;0001328	NA	Decipher;Genomics England;OMIM	https://www.omim.org/entry/619352	Childhood-onset ataxia, intention tremor, and hypotonia syndrome (ATITHS) is a neurodevelopmental disorder characterized by delayed walking due to ataxia, intention tremor, and hypotonia apparent from early childhood. Affected individuals have global developmental delay with mildly impaired intellectual development and speech delay or learning disabilities. Eye movement abnormalities may also be present. Brain imaging shows cerebellar atrophy in some patients (summary by Webb et al., 2021).
rs3011523	chr13	113172707	114172707	ATP11A	ATPIH|ATPIS|KIAA1021	13552	ENSG00000068650	113344643	113541482	+	605868	615654	90635	Deafness, autosomal dominant 58	0000365;0000360	0050564;0110582	Orphanet	NA	 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2p21-p12.
rs3011523	chr13	113172707	114172707	ATP11A	ATPIH|ATPIS|KIAA1021	13552	ENSG00000068650	113344643	113541482	+	605868	616373	2032	Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 3	0001744;0045051;0002110;0002875;0002094;0025175;0002020;0031631;0001541;0006530;0001409;0031950;0030830;0025390;0012378;0002206;0010444;0025179;0003546;0001063;0100759;0012735;0001217;0033367;0032341;0002910	NA	Orphanet	NA	An interstitial lung disease with a poor prognosis, that is characterized by the progressive formation of scar tissue within the lungs in the absence of any known cause.
rs3011523	chr13	113172707	114172707	ATP11A	ATPIH|ATPIS|KIAA1021	13552	ENSG00000068650	113344643	113541482	+	605868	619810	NA	Deafness, autosomal dominant 84	0008619;0000407	NA	Genomics England;OMIM	https://www.omim.org/entry/619810	Autosomal dominant deafness-84 (DFNA84) is characterized by slowly progressive nonsyndromic sensorineural hearing loss. Onset is usually in the postlingual period, during the first or second decades, although both congenital and later onset has been reported. There is intrafamilial variation in disease severity, audiogram shape, and progression (summary by Pater et al., 2022).
rs3011523	chr13	113172707	114172707	ATP11A	ATPIH|ATPIS|KIAA1021	13552	ENSG00000068650	113344643	113541482	+	605868	619851	NA	Leukodystrophy, hypomyelinating, 24	0001249;0002119;0002415;0001263;0002059;0002505;0001250;0002376;0001284;0033725;0003477;0000821;0000518	0070406	OMIM	https://www.omim.org/entry/619851	 A hypomyelinating leukodystrophy characterized by global developmental delay and neurologic deterioration that has material basis in heterozygous mutation in the ATP11A gene on chromosome 13q34.
rs3011523	chr13	113172707	114172707	ATP11A	ATPIH|ATPIS|KIAA1021	13552	ENSG00000068650	113344643	113541482	+	605868	620384	NA	Auditory neuropathy, autosomal dominant 2	0001963;0000407	NA	OMIM	https://www.omim.org/entry/620384	Autosomal dominant auditory neuropathy-2 (AUNA2) is characterized by postlingual onset of progressive bilateral sensorineural hearing loss in the second decade, leading to profound deafness in the fifth decade. Affected individuals show abnormal auditory brainstem responses (ABR) even before the onset of symptoms. Outer hair cell (OHC) function is preserved initially, but declines with age (Lang-Roth et al., 2017).
rs3011523	chr13	113172707	114172707	F7	NA	3544	ENSG00000057593	113760121	113774995	+	613878	227500	327	Factor VII deficiency	0011891;0004846;0000978;0001928;0000138;0002170;0000132;0002239;0003256;0000421;0001892;0012233;0008151;0005261;0008169;0000225;0010881	NA	Genomics England;OMIM;Orphanet	https://www.omim.org/entry/227500	A hemorrhagic disease with variable presentation. The clinical picture can be very severe, with the early occurrence of intracerebral hemorrhages or repeated hemarthroses, or, in contrast, moderate with cutaneous-mucosal hemorrhages (epistaxis, menorrhagia) or hemorrhages provoked by a surgical intervention. Finally, numerous subjects are completely asymptomatic despite very low factor VII levels.
rs3011523	chr13	113172707	114172707	F7	NA	3544	ENSG00000057593	113760121	113774995	+	613878	608446	NA	Myocardial infarction, susceptibility to	NA	NA	OMIM	https://www.omim.org/entry/608446	NA
rs3011523	chr13	113172707	114172707	F10	NA	3528	ENSG00000126218	113777132	113803843	+	613872	227600	328	Factor X deficiency	0011891;0004846;0000978;0001928;0007420;0002170;0002138;0000132;0002239;0003256;0000421;0011854;0025328;0001892;0008321;0030140;0006298;0012233;0008151;0005261;0000790;0011884;0000225;0003645	NA	Genomics England;OMIM;Orphanet	https://www.omim.org/entry/227600	Factor X deficiency is a rare autosomal recessive bleeding disorder showing variable phenotypic severity. Affected individuals can manifest prolonged nasal and mucosal hemorrhage, menorrhagia, hematuria, and occasionally hemarthrosis. The disorder can be caused either by reduced levels of the factor X protein or by synthesis of a dysfunctional factor X protein (summary by Millar et al., 2000).
rs3011523	chr13	113172707	114172707	PROZ	PZ	9460	ENSG00000126231	113812968	113826694	+	176895	614024	NA	Protein z deficiency	NA	NA	Genomics England	NA	NA
rs3011523	chr13	113172707	114172707	PROZ	PZ	9460	ENSG00000126231	113812968	113826694	+	176895	NA	329217	Cerebral sinovenous thrombosis	NA	NA	Orphanet	NA	A rare, potentially life-threatening, circulatory system disease characterized by variable signs and symptoms which may include headache, seizures, altered mental status, intracranial hypertension and cavernous sinus syndrome, among others.
rs3011523	chr13	113172707	114172707	PROZ	PZ	9460	ENSG00000126231	113812968	113826694	+	176895	NA	64738	NON RARE IN EUROPE: Non rare thrombophilia	NA	NA	Orphanet	NA	NA
rs8038900	chr15	63679408	64679408	HERC1	p532|p619	4867	ENSG00000103657	63900817	64126087	-	605109	617011	457359	Macrocephaly, dysmorphic facies, and psychomotor retardation	;0007204;0001252;0002007;0001355;0000256;0002059;0001999;0001334;0000400;0002355;0002223;0000494;0011003;0006863;0000098;0000358;0001166;0001388;0000472;0002069;0002066;0010864;0000238;0001176;0001519;0001250;0000582;0000218;0002120;0000316;0002808;0001998;0011220;0001376;0001272;0007074;0001555;0001263;0001833;0001520;0003307;0000369;0000276;0011330;0000272;0045075;0001548;0000735;0002307;0001533;0000586;0000303;0002650;0002119;0001249;0011229;0000325;0001763;0000297;0001290;0000054;0001321;0002938;0000520;0000426;0001344;0000368;0000750;0002751	NA	Decipher;Genomics England;OMIM;Orphanet	https://www.omim.org/entry/617011	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by overgrowth and macrocephaly with megalencephaly apparent at birth, global developmental delay, intellectual disability, and dysmorphic facial features (including frontal bossing, long face, sparse eyebrows, hypertelorism, downslanting palpebral fissures, and prognathism). Patients may exhibit tall stature with dolichostenomelia, arachnodactyly, kyphoscoliosis, and joint laxity, as well as neurologic manifestations, such as hypotonia, gait ataxia, or seizures. Brain imaging may show increased white matter volume, thick corpus callosum, or small cerebellum.
rs8038900	chr15	63679408	64679408	PPIB	CYPB|OI9|PPIase|B|CYP-S1|SCYLP	9255	ENSG00000166794	64448011	64455404	-	123841	166210	216804	Osteogenesis imperfecta, type II	0001635;0000592;0000963;0000239;0000926;0002644;0005622;0002982;0002093;0006367;0008873;0005474;0001622;0005855;0010444;0002645;0001790;0000923;0002757;0001518;0000444	0110341	Orphanet	NA	Osteogenesis imperfecta type II (OI2) is a connective tissue disorder characterized by bone fragility, with many perinatal fractures, severe bowing of long bones, undermineralization, and death in the perinatal period due to respiratory insufficiency (Sillence et al., 1979; Barnes et al., 2006).
rs8038900	chr15	63679408	64679408	PPIB	CYPB|OI9|PPIase|B|CYP-S1|SCYLP	9255	ENSG00000166794	64448011	64455404	-	123841	166220	216820	Osteogenesis imperfecta, type IV	0000362;0002645;0004349;0005005;0000703;0003023;0002757;0003321;0000365;0002650;0002808	0110340	Orphanet	NA	Osteogenesis imperfecta (OI) is a connective tissue disorder that is caused by an abnormality of type I collagen in over 90% of cases. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes: OI type I with blue sclerae (166200); perinatal lethal OI type II, also known as congenital OI (166210); OI type III, a progressively deforming form with normal sclera (259420); and OI type IV, with normal sclerae. Levin et al. (1978) suggested that OI subtypes could be further divided into types A and B based on the absence or presence of dentinogenesis imperfecta.
rs8038900	chr15	63679408	64679408	PPIB	CYPB|OI9|PPIase|B|CYP-S1|SCYLP	9255	ENSG00000166794	64448011	64455404	-	123841	259420	216812	Osteogenesis imperfecta, type III	0002007;0000592;0003023;0003100;0008921;0000365;0000707;0000765;0002092;0003179;0002982;0002808;0000347;0005474;0000703;0005855;0002650;0005897;0004586;0002645;0000325;0005758;0002757;0000260;0002691	0110339	Orphanet	NA	A severe type form osteogenesis imperfecta characterized by increased bone fragility and low bone mass clinically manifesting as susceptibility to bone fractures, severe short stature, a triangular face, moderate to severe scoliosis, blue or blue-grey sclera, and dentinogenesis imperfecta.
rs8038900	chr15	63679408	64679408	PPIB	CYPB|OI9|PPIase|B|CYP-S1|SCYLP	9255	ENSG00000166794	64448011	64455404	-	123841	259440	NA	Osteogenesis imperfecta, type IX	0008873;0003023;0005855;0002650;0002808	0110349	Genomics England;OMIM	https://www.omim.org/entry/259440	Osteogenesis imperfecta is a connective tissue disorder characterized clinically by bone fragility and increased susceptibility to fractures. Osteogenesis imperfecta type IX is a severe autosomal recessive form of the disorder (summary by van Dijk et al., 2009).
rs8038900	chr15	63679408	64679408	CSNK1G1	CK1gamma1	2454	ENSG00000169118	64457716	64648386	-	606274	209850	NA	Autism	;0001249;0000728;0000721;0002353;0000758;0001250;0001425;0000735;0000723;0000733;0000717;0000732;0000750;0003144	12849	Genomics England	NA	Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).
rs8038900	chr15	63679408	64679408	CSNK1G1	CK1gamma1	2454	ENSG00000169118	64457716	64648386	-	606274	NA	NA	Early infantile epileptic encephalopathy and microcephaly	NA	NA	Decipher	NA	NA
rs4674	chr19	41430396	42430396	CYP2B6	CPB6|CYPIIB6	2615	ENSG00000197408	41497204	41524303	+	123930	614546	NA	Efavirenz, poor metabolism of	NA	NA	OMIM	https://www.omim.org/entry/614546	Highly active antiretroviral therapy (HAART) has reduced mortality associated with acquired immunodeficiency syndrome (AIDS; see 609423) by at least 70%. Efavirenz is a non-nucleoside reverse transcriptase inhibitor that is frequently prescribed with 2 nucleoside reverse transcriptase inhibitors as initial therapy for human immunodeficiency virus (HIV) infection. However, during the first weeks of therapy, up to half of patients who receive efavirenz experience CNS side effects, including dizziness, insomnia, impaired concentration, somnolence, and abnormal dreams. Severe depression, aggressive behavior, and paranoid or manic reactions may also occur, and such side effects may reflect varying efavirenz plasma concentrations. Plasma clearance of efavirenz appears slower in African Americans than in European Americans, and studies have suggested earlier virologic failure on efavirenz for both African Americans and Hispanics compared with European Americans. Efavirenz is metabolized primarily by hepatic CYP2B6, with some involvement of CYP3A (CYP3A4; 124010) (summary by Haas et al., 2004).
rs4674	chr19	41430396	42430396	TGFB1	CED|TGFbeta	11766	ENSG00000105329	41836228	41859816	-	190180	131300	1328	Camurati-Engelmann disease	0001744;0005528;0002007;0000016;0004326;0005464;0001999;0002823;0004396;0001639;0000365;0006501;0002694;0001903;0000684;0040071;0002515;0002652;0010628;0002818;0001324;0012544;0002240;0000925;0002644;0005791;0002992;0000135;0000648;0001882;0002808;0000501;0001376;0003388;0002039;0000823;0003307;0009763;0002653;0000670;0001533;0003565;0000763;0000303;0002650;0012514;0007552;0100255;0000929;0007807;0002857;0001763;0100774;0008872;0000651;0002167;0003063;0000520;0032458;0002673;0003034;0003202;0001002;0002315;0000940;0001251	4997	Decipher;Genomics England;OMIM;Orphanet	https://www.omim.org/entry/131300	Camurati-Engelmann disease is a rare autosomal dominant type of bone bone dysplasia. The hallmark of the disorder is the cortical thickening of the diaphyses of the long bones. Hyperostosis is bilateral and symmetrical and usually starts at the diaphyses of the femora and tibiae, expanding to the fibulae, humeri, ulnae, and radii. As the disease progresses, the metaphyses may be affected as well, but the epiphyses are spared. Sclerotic changes at the skull base may be present. The onset of the disease is usually during childhood and almost always before the age of 30. Most patients present with limb pain, muscular weakness, a waddling gait, and easy fatigability. Systemic manifestations such as anemia, leukopenia, and hepatosplenomegaly occur occasionally (summary by Janssens et al., 2006).
rs4674	chr19	41430396	42430396	TGFB1	CED|TGFbeta	11766	ENSG00000105329	41836228	41859816	-	190180	219700	586	Cystic fibrosis lung disease, modifier of	0002110;0032342;0000938;0001392;0045082;0002020;0002150;0000365;0001738;0032447;0012873;0002726;0002842;0002099;0002107;0004401;0100582;0032261;0002910;0000246;0005376;0003251;0002205;0006536;0000939;0002035;0002724;0002783;0000787;0000716;0001394;0002570;0002105;0002024;0001648;0002613;0000739;0012236;0001508	1485	OMIM;Orphanet	https://www.omim.org/entry/219700	A common generalized disorder of the exocrine glands which impairs clearance of secretions in a variety of organs. It is characterized by the triad of chronic bronchopulmonary disease (with recurrent respiratory infections), pancreatic insufficiency (which leads to malabsorption and growth retardation) and elevated sweat electrolytes. It is the most common genetic disease in Caucasians, with a prevalence of about 1 in 2'000 live births. Inheritance is autosomal recessive.
rs4674	chr19	41430396	42430396	TGFB1	CED|TGFbeta	11766	ENSG00000105329	41836228	41859816	-	190180	618213	NA	Inflammatory bowel disease, immunodeficiency, and encephalopathy	0001252;0002037;0002059;0011123;0002521;0001250;0012448;0011097;0001263;0002353;0002719;0002583;0002205;0100543;0001290;0001298;0002079;0000750;0001974;0001508	NA	Genomics England;OMIM	https://www.omim.org/entry/618213	An autosomal recessive disorder characterized by severe infantile inflammatory bowel disease manifesting as bloody diarrhea and failure to thrive, global developmental delay, epilepsy, brain atrophy and encephalopathy. Affected individuals suffer from recurrent infections associated with impaired T-cell response to stimulation and decreased T-cell subsets, including regulatory and helper T cells.
rs4674	chr19	41430396	42430396	TGFB1	CED|TGFbeta	11766	ENSG00000105329	41836228	41859816	-	190180	NA	565788	Infantile inflammatory bowel disease with neurological involvement	NA	NA	Orphanet	NA	A rare genetic disease characterized by infantile onset of severe inflammatory bowel disease manifesting with bloody diarrhea and failure to thrive, and central nervous system disease with global developmental delay and regression, impaired speech, hypotonia, hyperreflexia, and epilepsy. Brain imaging shows global cerebral atrophy, thin corpus callosum, delayed myelination, and posterior leukoencephalopathy. Cases with recurrent infections and impaired T-cell responses to stimulation, as well as decreased T-cell subsets, have been reported.
rs4674	chr19	41430396	42430396	B9D2	MGC4093|MKS10|MKSR-2	28636	ENSG00000123810	41860326	41870078	-	611951	609345	564	Cerebrorenodigital syndrome with limb malformations and triradiate acetabula	0001746;0006487;0001883;0002612;0000003;0000532;0001747;0000252;0000457;0001737;0000073;0006870;0002323;0001177;0001305;0000238;0001830;0000175;0000037;0010295;0000340;0000316;0100732;0006706;0007370;0000347;0001562;0000293;0000028;0002084;0008053;0000482;0010459;0030680;0000647;0000528;0000068;0001162;0001696;0000368;0000062;0000221;0000518;0000568;0000648	0050778	Orphanet	NA	A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.
rs4674	chr19	41430396	42430396	B9D2	MGC4093|MKS10|MKSR-2	28636	ENSG00000123810	41860326	41870078	-	611951	614175	NA	Joubert syndrome 34	0002007;0000508;0006487;0000193;0002323;0001250;0000175;0000377;0000107;0003244;0002085;0002419;0000286;0000054;0001321;0008736;0100259;0045025;0000047;0000960	NA	Genomics England;OMIM	https://www.omim.org/entry/614175	NA
rs4674	chr19	41430396	42430396	B9D2	MGC4093|MKS10|MKSR-2	28636	ENSG00000123810	41860326	41870078	-	611951	617121	475	Joubert syndrome 28	0003468;0001161;0010867;0000556;0000508;0001252;0000864;0001288;0002269;0003312;0001274;0001829;0000238;0001250;0011968;0000175;0001337;0004422;0000639;0007370;0000657;0001651;0001263;0000480;0002553;0002876;0000369;0002084;0000276;0002419;0002650;0002251;0002126;0001249;0000572;0002793;0000488;0030680;0001290;0008872;0000463;0000426;0000612;0001696;0000368;0001320;0002104;0000202;0000486;0001251	0110997;0050777	Orphanet	NA	A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS28 inheritance is autosomal recessive.
rs4674	chr19	41430396	42430396	EXOSC5	hRrp46p|Rrp46p|RRP46|RRP41B|MGC12901|p12B	24662	ENSG00000077348	41892279	41903384	-	606492	619576	NA	Cerebellar ataxia, brain abnormalities, and cardiac conduction defects	0012385;0001252;0001363;0001678;0002540;0000543;0002059;0000252;0002365;0000565;0003510;0005458;0000455;0001260;0031546;0001510;0031936;0001250;0011968;0001310;0000545;0012448;0000582;0000639;0002120;0001182;0000347;0011712;0000293;0000483;0000275;0000486;0004209;0002058;0001257;0004756;0002015;0002650;0002119;0000546;0001270;0001654;0001249;0000303;0100704;0001662;0001290;0000278;0001321;0000286;0033725;0032012;0000426;0001347;0004322;0040195;0000750;0001251	NA	OMIM	https://www.omim.org/entry/619576	Cerebellar ataxia, brain abnormalities, and cardiac conduction defects (CABAC) is an autosomal recessive primarily neurologic disorder with variable manifestations. Common features included infantile-onset hypotonia, poor motor development, poor feeding and overall growth, and ataxic gait due to cerebellar ataxia. Other features include dysarthria, nystagmus, variable ocular anomalies, spasticity, hyperreflexia, and nonspecific dysmorphic features. Most, but not all, patients have global developmental delay with impaired intellectual development and speech delay. Brain imaging shows cerebellar hypoplasia, often with brainstem hypoplasia, enlarged ventricles, delayed myelination, and thin corpus callosum. A significant number of patients develop cardiac conduction defects in childhood or adolescence, often requiring pacemaker placement (summary by Slavotinek et al., 2020).
rs4674	chr19	41430396	42430396	EXOSC5	hRrp46p|Rrp46p|RRP46|RRP41B|MGC12901|p12B	24662	ENSG00000077348	41892279	41903384	-	606492	NA	641361	Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome	NA	NA	Orphanet	NA	NA
rs4674	chr19	41430396	42430396	BCKDHA	MSU	986	ENSG00000248098	41903365	41930910	+	608348	248600	268173	Maple syrup urine disease, type Ia	0001254;0001404;0010867;0001252;0000602;0002171;0007305;0002490;0001276;0001608;0001943;0002181;0001260;0001315;0001250;0011968;0003128;0000639;0004374;0002093;0001946;0001508;0002151;0000738;0001263;0002013;0001425;0000998;0001733;0001257;0001332;0000580;0008344;0001249;0002793;0000407;0008872;0001259;0001290;0000712;0000600;0001347;0001507;0000648;0001251	9269	Decipher;Genomics England;OMIM;Orphanet	https://www.omim.org/entry/248600	A metabolic disorder due to an enzyme defect in the catabolic pathway of the branched-chain amino acids leucine, isoleucine, and valine. Accumulation of these 3 amino acids and their corresponding keto acids leads to encephalopathy and progressive neurodegeneration. Clinical features include mental and physical retardation, feeding problems, and a maple syrup odor to the urine. The keto acids of the branched-chain amino acids are present in the urine. If untreated, maple syrup urine disease can lead to seizures, coma, and death. The disease is often classified by its pattern of signs and symptoms. The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still involve developmental delay and other medical problems if not treated.
rs4674	chr19	41430396	42430396	CEACAM6	CD66c|NCA-50/90	1818	ENSG00000086548	42259329	42276113	+	163980	219700	586	Cystic fibrosis lung disease, modifier of	0002110;0032342;0000938;0001392;0045082;0002020;0002150;0000365;0001738;0032447;0012873;0002726;0002842;0002099;0002107;0004401;0100582;0032261;0002910;0000246;0005376;0003251;0002205;0006536;0000939;0002035;0002724;0002783;0000787;0000716;0001394;0002570;0002105;0002024;0001648;0002613;0000739;0012236;0001508	1485	Orphanet	NA	A common generalized disorder of the exocrine glands which impairs clearance of secretions in a variety of organs. It is characterized by the triad of chronic bronchopulmonary disease (with recurrent respiratory infections), pancreatic insufficiency (which leads to malabsorption and growth retardation) and elevated sweat electrolytes. It is the most common genetic disease in Caucasians, with a prevalence of about 1 in 2'000 live births. Inheritance is autosomal recessive.
rs4674	chr19	41430396	42430396	CEACAM3	CD66d|CGM1a	1815	ENSG00000170956	42300369	42315591	+	609142	219700	586	Cystic fibrosis lung disease, modifier of	0002110;0032342;0000938;0001392;0045082;0002020;0002150;0000365;0001738;0032447;0012873;0002726;0002842;0002099;0002107;0004401;0100582;0032261;0002910;0000246;0005376;0003251;0002205;0006536;0000939;0002035;0002724;0002783;0000787;0000716;0001394;0002570;0002105;0002024;0001648;0002613;0000739;0012236;0001508	1485	Orphanet	NA	A common generalized disorder of the exocrine glands which impairs clearance of secretions in a variety of organs. It is characterized by the triad of chronic bronchopulmonary disease (with recurrent respiratory infections), pancreatic insufficiency (which leads to malabsorption and growth retardation) and elevated sweat electrolytes. It is the most common genetic disease in Caucasians, with a prevalence of about 1 in 2'000 live births. Inheritance is autosomal recessive.
rs4674	chr19	41430396	42430396	RPS19	S19|eS19|DBA	10402	ENSG00000105372	42363988	42376994	+	603474	105650	NA	Diamond-Blackfan anemia 1	0003003;0000774;0001873;0008437;0008475;0001629;0001680;0000252;0001199;0000494;0000470;0003510;0000457;0009777;0008883;0001875;0008447;0001631;0002669;0000204;0000175;0000878;0000218;0002863;0000316;0000465;0004423;0000347;0000270;0001622;0000980;0000946;0410030;0002984;0001894;0002697;0001249;0001511;0000278;0001896;0009778;0004322;0000486;0001508	0111895	Genomics England;OMIM	https://www.omim.org/entry/105650	Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013).
rs4674	chr19	41430396	42430396	RPS19	S19|eS19|DBA	10402	ENSG00000105372	42363988	42376994	+	603474	606129	124	Diamond-blackfan anemia 2	0000294;0001254;0008551;0001873;0000508;0000431;0001629;0001680;0000252;0001199;0000470;0001087;0001895;0009777;0011904;0001510;0001875;0001631;0020118;0002669;0000519;0000912;0000218;0012758;0002817;0002863;0000316;0001882;0001227;0000465;0040276;0000347;0004808;0012410;0000980;0000369;0410030;0001627;0009944;0000104;0001894;0000234;0005280;0000185;0030270;0005518;0000286;0001790;0001896;0000085;0012133;0009778;0004322;0000047;0001518;0006758;0005532;0000486;0000119	0111885;1339	Orphanet	NA	Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013).
rs4674	chr19	41430396	42430396	RPS19	S19|eS19|DBA	10402	ENSG00000105372	42363988	42376994	+	603474	NA	NA	Rps19-related diamond-blackfan anemia	NA	NA	Decipher	NA	NA
rs4674	chr19	41430396	42430396	CD79A	MB-1|Ig-alpha|MB1|IGAlpha	1698	ENSG00000105369	42381190	42385439	+	112205	613500	33110	Agammaglobulinemia 2	0002110;0006532;0002014;0004313;0012115;0001581;0001875;0000389;0000988;0000218;0000316;0008572;0200043;0100806;0001944;0000246;0002719;0012378;0002720;0002205;0002754;0001945;0000509;0002721;0001287;0002718;0012735;0000286;0004432;0001369;0002024;0100658;0001508	0081135	Orphanet	NA	A primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life.
rs4674	chr19	41430396	42430396	CD79A	MB-1|Ig-alpha|MB1|IGAlpha	1698	ENSG00000105369	42381190	42385439	+	112205	613501	NA	Agammaglobulinemia 3	0002718;0001875;0004432;0000403;0002205;0002014;0004313;0001882;0002837;0001508	0081137	Genomics England;OMIM	https://www.omim.org/entry/613501	A primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life.
rs4674	chr19	41430396	42430396	ARHGEF1	P115-RHOGEF|SUB1.5|LBCL2	681	ENSG00000076928	42388515	42411606	+	601855	618459	NA	Immunodeficiency 62	0002110;0001973;0004315	0111991	Genomics England;OMIM	https://www.omim.org/entry/618459	Immunodeficiency-62 (IMD62) is an autosomal recessive primary immunologic disorder clinically characterized by onset of recurrent upper and lower respiratory infections late in the first decade of life. Patients may also have increased viral susceptibility to varicella zoster virus (VZV) or herpes simplex virus (HSV). Laboratory studies show impaired antibody response to vaccination, low levels of circulating memory B cells, and almost undetectable antibodies. There is also evidence of secondary T-cell dysfunction. The disorder may result from disturbed actin cytoskeleton dynamics causing impaired lymphocyte migration (summary by Bouafia et al., 2019).
rs2618599	chr20	17239173	18239173	BFSP1	CP94|CP115|LIFL-H|filensin	1040	ENSG00000125864	17474550	17512014	-	603307	609376	98991	Cataract 35	0000518	0110261	Orphanet	NA	 A cataract that has material basis in variation in the region 19q13.
rs2618599	chr20	17239173	18239173	BFSP1	CP94|CP115|LIFL-H|filensin	1040	ENSG00000125864	17474550	17512014	-	603307	611391	NA	Cataract 33, multiple types	0007834;0007971;0001118;0100018;0100019;0000519;0007648;0000518	0110264	Decipher;Genomics England;OMIM	https://www.omim.org/entry/611391	An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT33 has juvenile-onset and the opacities are restricted to the cortex of the lens, not involving the nucleus.
rs2618599	chr20	17239173	18239173	MGME1	bA504H3.4|DDK1	16205	ENSG00000125871	17949556	17971765	+	615076	615084	352447	Mitochondrial DNA depletion syndrome 11	0000508;0001644;0030319;0002094;0040013;0002018;0000252;0008443;0000590;0004396;0002014;0003236;0000544;0002028;0001315;0000815;0001324;0001609;0001618;0002878;0002093;0003200;0002808;0003388;0001272;0007209;0002719;0011675;0001611;0002015;0003546;0002747;0001249;0000787;0002098;0003306;0001321;0000651;0003700;0007126;0003198;0001265	0080129	Genomics England;OMIM;Orphanet	https://www.omim.org/entry/615084	Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported.
rs2618599	chr20	17239173	18239173	OVOL2	bA504H3.3|HOVO2|CHED	15804	ENSG00000125850	18004796	18038521	-	616441	122000	98975	Corneal dystrophy, posterior polymorphous, 1	0001131;0000501;0000505;0000613;0001089;0007957;0007709;0011483;0009926;0011488;0000585;0009918	0110855	Decipher;Genomics England;OMIM;Orphanet	https://www.omim.org/entry/122000	Posterior polymorphous corneal dystrophy (PPCD) is a rare disorder involving metaplasia and overgrowth of corneal endothelial cells (Krafchak et al., 2005). In patients with PPCD, these cells manifest in an epithelial morphology and gene expression pattern, produce an aberrant basement membrane, and, sometimes, spread over the iris and nearby structures in a way that increases the risk for glaucoma. Symptoms can range from very aggressive to asymptomatic and nonprogressive, even within the same family. The age of diagnosis is, most often, in the second or third decade of life.
rs2618599	chr20	17239173	18239173	OVOL2	bA504H3.3|HOVO2|CHED	15804	ENSG00000125850	18004796	18038521	-	616441	609141	98973	Corneal dystrophy, posterior polymorphous, 3	0001131;0007957;0100692;0007663;0011483;0000565;0011490;0012040;0000632;0000023;0011491;0032122;0011488;0009918;0000501;0000622;0012038;0000505;0000483;0025358;0000646;0007906;0000613;0200026;0000563;0000034;0200065	0110857;0060457	Orphanet	NA	Posterior polymorphous corneal dystrophy-3 (PPCD3) is a rare disorder involving metaplasia and overgrowth of corneal endothelial cells (Krafchak et al., 2005). In patients with PPCD, these cells manifest in an epithelial morphology and gene expression pattern, produce an aberrant basement membrane, and sometimes spread over the iris and nearby structures in a way that increases the risk for glaucoma. Symptoms range from very aggressive to asymptomatic and nonprogressive, even within the same family. The age of diagnosis is most often in the second or third decade of life.
rs2618599	chr20	17239173	18239173	PET117	CSRP2BP	40045	ENSG00000232838	18118517	18123813	+	614771	619046	254905	Mitochondrial complex IV deficiency, nuclear type 3	0010867;0001252;0002490;0001972;0001639;0001943;0001250;0011968;0002878;0002133;0000639;0001508;0001263;0002376;0001942;0000407;0001290;0001298;0000114;0001251	0081377;0070492	Orphanet	NA	Mitochondrial complex IV deficiency nuclear type 3 (MC4DN3) is an autosomal recessive multisystem metabolic disorder with a highly variable phenotype. Some patients present with encephalomyopathic features in early infancy, whereas others may present later in infancy or the first years of life after normal early development. Affected individuals show hypotonia, failure to thrive, and developmental delay or regression with poor eye contact and loss of motor skills with ataxia. Additional features observed in some patients include proximal renal tubulopathy, macrocytic anemia, sensorineural hearing loss, nystagmus, and hypertrophic cardiomyopathy, consistent with systemic involvement. Brain imaging in most patients shows lesions consistent with Leigh syndrome (see 256000). Laboratory studies show increased serum lactate and decreased levels and activity of mitochondrial respiratory complex IV. Most patients die in infancy (summary by Valnot et al., 2000 and Antonicka et al., 2003).
rs2618599	chr20	17239173	18239173	PET117	CSRP2BP	40045	ENSG00000232838	18118517	18123813	+	614771	619063	NA	Mitochondrial complex IV deficiency, nuclear type 19	0001249;0002151;0001263;0007256;0002719;0002376;0003487;0002067;0002243;0500233;0002375;0004313;0000750	0070504	Genomics England;OMIM	https://www.omim.org/entry/619063	Mitochondrial complex IV deficiency nuclear type 19 (MC4DN19) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms in infancy or early childhood. Affected individuals show global developmental delay and developmental regression with a loss of acquired motor and language skills. Additional features include motor dysfunction, such as hypokinesia and pyramidal signs. More variable features may include recurrent infections with immunodeficiency and possibly protein-losing enteropathy. Serum lactate is increased; T2-weighted lesions in the medulla oblongata have also been reported. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV (Renkema et al., 2017).
rs3788544	chr22	38564966	39564966	PLA2G6	iPLA2|PNPLA9|PARK14|iPLA2beta|NBIA2	9039	ENSG00000184381	38507502	38577809	-	603604	256600	35069	Infantile neuroaxonal dystrophy 1	0001252;0002185;0007256;0002059;0000729;0001260;0003405;0000618;0011951;0002361;0000649;0008936;0001347;0001371;0000648;0002171;0002019;0001288;0003196;0000365;0002529;0002454;0000708;0002066;0011968;0001310;0000347;0012332;0001272;0005968;0001263;0002376;0030842;0002015;0007772;0002307;0012043;0001939;0002072;0000486;0000750;0010867;0001284;0031358;0003134;0002180;0002067;0002191;0000639;0001285;0012698;0011220;0003444;0002510;0003477;0025331;0001257;0003324;0001268;0001332;0000572;0010545;0001290;0000712;0002446;0002080;0001251;0007141;0002007;0012675;0001250;0002500;0002483;0002075;0000762;0003487;0025435;0005949;0000752;0002317;0002062;0001249;0000736;0100710;0001884;0009830	0110735	Decipher;Genomics England;OMIM;Orphanet	https://www.omim.org/entry/256600	Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two.
rs3788544	chr22	38564966	39564966	PLA2G6	iPLA2|PNPLA9|PARK14|iPLA2beta|NBIA2	9039	ENSG00000184381	38507502	38577809	-	603604	610217	NA	Neurodegeneration with brain iron accumulation 2B	0002185;0002059;0001276;0200136;0002345;0001260;0002066;0001250;0002067;0011968;0001310;0000639;0002075;0001272;0003487;0000720;0001257;0100543;0002015;0001268;0007772;0001332;0000752;0000736;0000712;0100710;0002080;0001884;0000750;0001575;0000648;0001251	0110736	Genomics England;OMIM	https://www.omim.org/entry/610217	A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. It is characterized by progressive extrapyramidal dysfunction leading to rigidity, dystonia, dysarthria and sensorimotor impairment.
rs3788544	chr22	38564966	39564966	PLA2G6	iPLA2|PNPLA9|PARK14|iPLA2beta|NBIA2	9039	ENSG00000184381	38507502	38577809	-	603604	612953	199351	Parkinson disease 14, autosomal recessive	0002185;0003236;0012675;0001260;0004373;0025262;0010522;0007058;0002067;0002063;0001250;0002145;0002172;0000746;0002071;0001337;0000718;0002548;0000658;0040081;0001263;0001257;0100543;0002015;0001268;0001332;0002312;0001300;0000751;0006892;0000716;0001336;0011999;0000338;0000605;0001347;0000571;0007153;0002283;0006919	0060900	Genomics England;OMIM;Orphanet	https://www.omim.org/entry/612953	A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.
rs3788544	chr22	38564966	39564966	DMC1	LIM15	2927	ENSG00000100206	38914954	38966291	-	602721	NA	619	NON RARE IN EUROPE: Primary ovarian failure	NA	5426	Orphanet	NA	NA
rs3788544	chr22	38564966	39564966	CBY1	PIGEA14|PIGEA-14|Chibby|Cby|Chibby1	1307	ENSG00000100211	39052660	39069859	+	607757	603596	NA	Polydactyly	NA	1148	Genomics England	NA	NA
rs3788544	chr22	38564966	39564966	CBY1	PIGEA14|PIGEA-14|Chibby|Cby|Chibby1	1307	ENSG00000100211	39052660	39069859	+	607757	617121	475	Joubert syndrome 28	0003468;0001161;0010867;0000556;0000508;0001252;0000864;0001288;0002269;0003312;0001274;0001829;0000238;0001250;0011968;0000175;0001337;0004422;0000639;0007370;0000657;0001651;0001263;0000480;0002553;0002876;0000369;0002084;0000276;0002419;0002650;0002251;0002126;0001249;0000572;0002793;0000488;0030680;0001290;0008872;0000463;0000426;0000612;0001696;0000368;0001320;0002104;0000202;0000486;0001251	0110997;0050777	Orphanet	NA	A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS28 inheritance is autosomal recessive.
rs3788544	chr22	38564966	39564966	DNAL4	dJ327J16|PIG27	2955	ENSG00000100246	39174513	39190178	-	610565	616059	238722	Mirror movements 3	0000044;0003388;0002949;0100021;0100022;0001256;0002492;0007010;0001274;0025101;0002312;0001335;0003326;0001328	0111153	OMIM;Orphanet	https://www.omim.org/entry/616059	A rare, genetic, movement disorder characterized by involuntary movements on one side of the body that mirror intentional movements on the opposite side of the body, which are present in various first-degree members of a family, persist beyond the first decade of life, and have no associated comorbidities.
