CGT List - International

CGT: Tests list

Select your test and find the gene, mutations and diseases related to them.

CGT Exome
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CGT 600
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CGT Exome v3.3.4
Historic Versions

id	gene	OMIM (gene)	Disease name (phenotype)	Inheritance
1	AAAS	605378	Triple-A syndrome (achalasia-addisonianism-alacrimia)	Autosomal recessive
1	AAAS	605378	Triple-A syndrome (achalasia-addisonianism-alacrimia)	Autosomal recessive
2	AARS1	601065	Epileptic encephalopathy, early infantile, type 29	Autosomal recessive
2	AARS1	601065	Epileptic encephalopathy, early infantile, type 29	Autosomal recessive
3	AARS2	612035	Combined oxidative phosphorylation deficiency 8; Leukoencephalopathy, progressive, with ovarian failure	Autosomal recessive
3	AARS2	612035	Combined oxidative phosphorylation deficiency 8; Leukoencephalopathy, progressive, with ovarian failure	Autosomal recessive
4	AASS	605113	Hyperlysinemia, type 1 and type 2	Autosomal recessive
4	AASS	605113	Hyperlysinemia, type 1 and type 2	Autosomal recessive
5	ABAT	137150	GABA-transaminase deficiency	Autosomal recessive
5	ABAT	137150	GABA-transaminase deficiency	Autosomal recessive
6	ABCA1	600046	Tangier disease	Autosomal recessive
6	ABCA1	600046	Tangier disease	Autosomal recessive
7	ABCA12	607800	Ichthyosis, congenital, autosomal recessive, type 4A; ICAR, type 4B (harlequin)	Autosomal recessive
7	ABCA12	607800	Ichthyosis, congenital, autosomal recessive, type 4A; ICAR, type 4B (harlequin)	Autosomal recessive
8	ABCA3	601615	Surfactant metabolism dysfunction, pulmonary, type 3	Autosomal recessive
8	ABCA3	601615	Surfactant metabolism dysfunction, pulmonary, type 3	Autosomal recessive
9	ABCA4	601691	Stargardt disease type 1; Cone-rod dystrophy type 3	Autosomal recessive
9	ABCA4	601691	Stargardt disease type 1; Cone-rod dystrophy type 3	Autosomal recessive
10	ABCB11	603201	Cholestasis, benign recurrent intrahepatic, type 2; Cholestasis, progressive familial intrahepatic, type 2	Autosomal recessive
10	ABCB11	603201	Cholestasis, benign recurrent intrahepatic, type 2; Cholestasis, progressive familial intrahepatic, type 2	Autosomal recessive

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CGT Plus v3.3.5
Historic Versions

id	gene	OMIM (gene)	Disease name (phenotype)	Inheritance
1	AAAS	605378	Triple-A syndrome (achalasia-addisonianism-alacrimia)	Autosomal recessive
1	AAAS	605378	Triple-A syndrome (achalasia-addisonianism-alacrimia)	Autosomal recessive
2	ABCA12	607800	Ichthyosis, congenital, autosomal recessive, type 4A; ICAR, type 4B (harlequin)	Autosomal recessive
2	ABCA12	607800	Ichthyosis, congenital, autosomal recessive, type 4A; ICAR, type 4B (harlequin)	Autosomal recessive
3	ABCA3	601615	Surfactant metabolism dysfunction, pulmonary, type 3	Autosomal recessive
3	ABCA3	601615	Surfactant metabolism dysfunction, pulmonary, type 3	Autosomal recessive
4	ABCA4	601691	Stargardt disease type 1; Cone-rod dystrophy type 3	Autosomal recessive
4	ABCA4	601691	Stargardt disease type 1; Cone-rod dystrophy type 3	Autosomal recessive
5	ABCB11	603201	Cholestasis, benign recurrent intrahepatic, type 2; Cholestasis, progressive familial intrahepatic, type 2	Autosomal recessive
5	ABCB11	603201	Cholestasis, benign recurrent intrahepatic, type 2; Cholestasis, progressive familial intrahepatic, type 2	Autosomal recessive
6	ABCC8	600509	Hyperinsulinemic hypoglycemia, type 1 (congenital hyperinsulinism); Permanent neonatal diabetes mellitus (PNDM)	Autosomal recessive
6	ABCC8	600509	Hyperinsulinemic hypoglycemia, type 1 (congenital hyperinsulinism); Permanent neonatal diabetes mellitus (PNDM)	Autosomal recessive
7	ABCD1	300371	Adrenoleukodystrophy	X-linked
7	ABCD1	300371	Adrenoleukodystrophy	X-linked
8	ABCD4	603214	Methylmalonic aciduria and homocystinuria, cblJ type	Autosomal recessive
8	ABCD4	603214	Methylmalonic aciduria and homocystinuria, cblJ type	Autosomal recessive
9	ACAD8	604773	Isobutyryl-CoA dehydrogenase deficiency	Autosomal recessive
9	ACAD8	604773	Isobutyryl-CoA dehydrogenase deficiency	Autosomal recessive
10	ACAD9	611103	Acyl-CoA dehydrogenase 9 deficiency (mitochondrial complex I deficiency, nuclear, type 20)	Autosomal recessive
10	ACAD9	611103	Acyl-CoA dehydrogenase 9 deficiency (mitochondrial complex I deficiency, nuclear, type 20)	Autosomal recessive

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CGT Bank v3.3.10
CGT Bank v3.3.11
Historic Versions

id	gene	OMIM (gene)	Disease name (phenotype)	Inheritance
1	ABCD1	300371	Adrenoleukodystrophy	X-linked
1	ABCD1	300371	Adrenoleukodystrophy	X-linked
2	AFF2	300806	Mental retardation, X-linked, FRAXE type	X-linked
2	AFF2	300806	Mental retardation, X-linked, FRAXE type	X-linked
3	AP1S2	300629	Mental retardation, X-linked, syndromic, type 5 (Pettigrew syndrome)	X-linked
3	AP1S2	300629	Mental retardation, X-linked, syndromic, type 5 (Pettigrew syndrome)	X-linked
4	AR	313700	Androgen insensitivity syndrome, complete	X-linked
4	AR	313700	Androgen insensitivity syndrome, complete	X-linked
5	ARSL	300180	Chondrodysplasia punctata, brachytelephalangic	X-linked
5	ARSL	300180	Chondrodysplasia punctata, brachytelephalangic	X-linked
6	ARX	300382	Epileptic encephalopathy, early infantile, type 1; ARX-related developmental disorders	X-linked
6	ARX	300382	Epileptic encephalopathy, early infantile, type 1; ARX-related developmental disorders	X-linked
7	ATP7A	300011	Menkes disease; Occipital horn syndrome	X-linked
7	ATP7A	300011	Menkes disease; Occipital horn syndrome	X-linked
8	ATRX	300504	Mental retardation-hypotonic facies syndrome, X-linked; Alpha-thalassemia/mental retardation syndrome	X-linked
8	ATRX	300504	Mental retardation-hypotonic facies syndrome, X-linked; Alpha-thalassemia/mental retardation syndrome	X-linked
9	BRWD3	300553	Mental retardation, X-linked, type 93	X-linked
9	BRWD3	300553	Mental retardation, X-linked, type 93	X-linked
10	BTK	300300	Agammaglobulinemia X-linked, type 1	X-linked
10	BTK	300300	Agammaglobulinemia X-linked, type 1	X-linked

id	gene	OMIM (gene)	Disease name (phenotype)	Inheritance
1	ABCD1	300371	Adrenoleukodystrophy	X-linked
1	ABCD1	300371	Adrenoleukodystrophy	X-linked
2	AP1S2	300629	Mental retardation, X-linked, syndromic, type 5 (Pettigrew syndrome)	X-linked
2	AP1S2	300629	Mental retardation, X-linked, syndromic, type 5 (Pettigrew syndrome)	X-linked
3	AR	313700	Androgen insensitivity syndrome, complete	X-linked
3	AR	313700	Androgen insensitivity syndrome, complete	X-linked
4	ARSL	300180	Chondrodysplasia punctata, brachytelephalangic	X-linked
4	ARSL	300180	Chondrodysplasia punctata, brachytelephalangic	X-linked
5	ARX	300382	Epileptic encephalopathy, early infantile, type 1; ARX-related developmental disorders	X-linked
5	ARX	300382	Epileptic encephalopathy, early infantile, type 1; ARX-related developmental disorders	X-linked
6	ATP7A	300011	Menkes disease; Occipital horn syndrome	X-linked
6	ATP7A	300011	Menkes disease; Occipital horn syndrome	X-linked
7	ATRX	300504	Mental retardation-hypotonic facies syndrome, X-linked; Alpha-thalassemia/mental retardation syndrome	X-linked
7	ATRX	300504	Mental retardation-hypotonic facies syndrome, X-linked; Alpha-thalassemia/mental retardation syndrome	X-linked
8	BRWD3	300553	Mental retardation, X-linked, type 93	X-linked
8	BRWD3	300553	Mental retardation, X-linked, type 93	X-linked
9	BTK	300300	Agammaglobulinemia X-linked, type 1	X-linked
9	BTK	300300	Agammaglobulinemia X-linked, type 1	X-linked
10	CD40LG	300386	Hyper-IgM syndrome, type 1 (immunodeficiency, X-linked, with hyper-IgM, type 1)	X-linked
10	CD40LG	300386	Hyper-IgM syndrome, type 1 (immunodeficiency, X-linked, with hyper-IgM, type 1)	X-linked

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CGT 600 v1.1
CGT 600 v1.2

Gene	Disease	Transcript	Mutations	Disease description
ABCA4	Cone-rod dystrophy type 3	NM_000350.2	NM_000350.2:c.3540_3555delGTCTAAGGGTTTCTCC, NM_000350.2:c.2616_2617delCT, NM_000350.2:c.4793C>A, NM_000350.2:c.6179T>G, NM_000350.2:c.1222C>T, NM_000350.2:c.763C>T	Cone rod dystrophy type 3 follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the ABCA4 gene located on chromosomal region 1p22. The age of onset is infantile[...]
ABCA4	Cone-rod dystrophy type 3	NM_000350.2	NM_000350.2:c.3540_3555delGTCTAAGGGTTTCTCC, NM_000350.2:c.2616_2617delCT, NM_000350.2:c.4793C>A, NM_000350.2:c.6179T>G, NM_000350.2:c.1222C>T, NM_000350.2:c.763C>T	Cone rod dystrophy type 3 follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the ABCA4 gene located on chromosomal region 1p22. The age of onset is infantile[...]
ABCA4	Retinitis pigmentosa type 19	NM_000350.2	NM_000350.2:c.1848delA	Retinitis pigmentosa type 19 follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the ABCA4 gene located on chromosomal region 1p22. The age of onset is variab[...]
ABCA4	Retinitis pigmentosa type 19	NM_000350.2	NM_000350.2:c.1848delA	Retinitis pigmentosa type 19 follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the ABCA4 gene located on chromosomal region 1p22. The age of onset is variab[...]
ABCA4	Stargardt disease type 1	NM_000350.2	NM_000350.2:c.1018T>G, NM_000350.2:c.4457C>T, NM_000350.2:c.1225delA, NM_000350.2:c.1622T>C, NM_000350.2:c.1715G>A, NM_000350.2:c.1755delA, NM_000350.2:c.1771delT, NM_000350.2:c.1804C>T, NM_000350.2:c[...]	Stargardt disease type 1 follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the ABCA4 gene located on chromosomal region 1p22. The age of onset is infantile.[...]
ABCA4	Stargardt disease type 1	NM_000350.2	NM_000350.2:c.1018T>G, NM_000350.2:c.4457C>T, NM_000350.2:c.1225delA, NM_000350.2:c.1622T>C, NM_000350.2:c.1715G>A, NM_000350.2:c.1755delA, NM_000350.2:c.1771delT, NM_000350.2:c.1804C>T, NM_000350.2:c[...]	Stargardt disease type 1 follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the ABCA4 gene located on chromosomal region 1p22. The age of onset is infantile.[...]
ABCB7	Sideroblastic anemia and ataxia, X-linked	NM_004299.4	NM_004299.4:c.1203T>G, NM_004299.4:c.1234G>C, NM_004299.4:c.1300G>A	X-linked sideroblastic anemia with ataxia follows an X-linked pattern of inheritance and is caused by pathogenic variants in the ABCB7 gene located on chromosomal region Xq13.3. The age of onset is ne[...]
ABCB7	Sideroblastic anemia and ataxia, X-linked	NM_004299.4	NM_004299.4:c.1203T>G, NM_004299.4:c.1234G>C, NM_004299.4:c.1300G>A	X-linked sideroblastic anemia with ataxia follows an X-linked pattern of inheritance and is caused by pathogenic variants in the ABCB7 gene located on chromosomal region Xq13.3. The age of onset is ne[...]
ACAD9	Acyl-CoA dehydrogenase type 9 deficiency	NM_014049.4	NM_014049.4:c.1240C>T, NM_014049.4:c.1249C>T, NM_014049.4:c.130T>A, NM_014049.4:c.1594C>T, NM_014049.4:c.23delT, NM_014049.4:c.358delT, NM_014049.4:c.797G>A, NM_014049.4:c.976G>C, NM_014049.4:c.453+1G[...]	Acyl-CoA dehydrogenase type 9 deficiency follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the ACAD9 gene located on chromosomal region 3q21.3. The age of o[...]
ACAD9	Acyl-CoA dehydrogenase type 9 deficiency	NM_014049.4	NM_014049.4:c.1240C>T, NM_014049.4:c.1249C>T, NM_014049.4:c.130T>A, NM_014049.4:c.1594C>T, NM_014049.4:c.23delT, NM_014049.4:c.358delT, NM_014049.4:c.797G>A, NM_014049.4:c.976G>C, NM_014049.4:c.453+1G[...]	Acyl-CoA dehydrogenase type 9 deficiency follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the ACAD9 gene located on chromosomal region 3q21.3. The age of o[...]
ACADM	Acyl-CoA dehydrogenase deficiency, medium-chain	NM_000016.5	NM_000016.5:c.1102_1105delTTAG, NM_000016.5:c.1232_1233delAA, NM_000016.5:c.287-2A>G, NM_000016.5:c.362C>T, NM_000016.5:c.447G>A, NM_000016.5:c.447G>T, NM_000016.5:c.449_452delCTGA, NM_000016.5:c.616C[...]	Medium chain acyl-CoA dehydrogenase deficiency follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the ACADM gene located on chromosomal region 1p31. The age [...]
ACADM	Acyl-CoA dehydrogenase deficiency, medium-chain	NM_000016.5	NM_000016.5:c.1102_1105delTTAG, NM_000016.5:c.1232_1233delAA, NM_000016.5:c.287-2A>G, NM_000016.5:c.362C>T, NM_000016.5:c.447G>A, NM_000016.5:c.447G>T, NM_000016.5:c.449_452delCTGA, NM_000016.5:c.616C[...]	Medium chain acyl-CoA dehydrogenase deficiency follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the ACADM gene located on chromosomal region 1p31. The age [...]
ACADS	Acyl-CoA dehydrogenase deficiency, short-chain	NM_000017.2	NM_000017.2:c.1095G>T, NM_000017.2:c.1108A>G, NM_000017.2:c.1147C>T, NM_000017.2:c.136C>T, NM_000017.2:c.319C>T, NM_000017.2:c.417G>C, NM_000017.2:c.529T>C, NM_000017.2:c.561_568delCAATGCCT, NM_000017[...]	Short chain acyl-CoA dehydrogenase deficiency follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the ACADS gene located on chromosomal region 12q24.31. The a[...]
ACADS	Acyl-CoA dehydrogenase deficiency, short-chain	NM_000017.2	NM_000017.2:c.1095G>T, NM_000017.2:c.1108A>G, NM_000017.2:c.1147C>T, NM_000017.2:c.136C>T, NM_000017.2:c.319C>T, NM_000017.2:c.417G>C, NM_000017.2:c.529T>C, NM_000017.2:c.561_568delCAATGCCT, NM_000017[...]	Short chain acyl-CoA dehydrogenase deficiency follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the ACADS gene located on chromosomal region 12q24.31. The a[...]
ACADSB	2-Methylbutyryl-CoA dehydrogenase deficiency	NM_001609.3	NM_001609.3:c.1159G>A, NM_001609.3:c.443C>T, NM_001609.3:c.763C>T, NM_001609.3:c.621G>A, NM_001609.3:c.303+1G>A	2-Methylbutyryl-CoA dehydrogenase deficiency follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the ACADSB gene located on chromosomal region 10q26.3. The ag[...]
ACADSB	2-Methylbutyryl-CoA dehydrogenase deficiency	NM_001609.3	NM_001609.3:c.1159G>A, NM_001609.3:c.443C>T, NM_001609.3:c.763C>T, NM_001609.3:c.621G>A, NM_001609.3:c.303+1G>A	2-Methylbutyryl-CoA dehydrogenase deficiency follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the ACADSB gene located on chromosomal region 10q26.3. The ag[...]
ACADVL	Very long chain acyl-CoA dehydrogenase deficiency	NM_000018.3	NM_000018.3:c.1096C>T, NM_000018.3:c.1097G>A, NM_000018.3:c.1106T>C, NM_000018.3:c.1141_1143delGAG, NM_000018.3:c.1182+1G>A, NM_000018.3:c.1357C>T, NM_000018.3:c.1360G>A, NM_000018.3:c.1375dupC, NM_00[...]	Very long chain acyl-CoA dehydrogenase deficiency follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the ACADVL gene located on chromosomal region 17p13.1. T[...]
ACADVL	Very long chain acyl-CoA dehydrogenase deficiency	NM_000018.3	NM_000018.3:c.1096C>T, NM_000018.3:c.1097G>A, NM_000018.3:c.1106T>C, NM_000018.3:c.1141_1143delGAG, NM_000018.3:c.1182+1G>A, NM_000018.3:c.1357C>T, NM_000018.3:c.1360G>A, NM_000018.3:c.1375dupC, NM_00[...]	Very long chain acyl-CoA dehydrogenase deficiency follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the ACADVL gene located on chromosomal region 17p13.1. T[...]
ACAT1	Beta-ketothiolase deficiency	NM_000019.3	NM_000019.3:c.1035_1037delAGA, NM_000019.3:c.1083dupA, NM_000019.3:c.1136G>T, NM_000019.3:c.1138G>A, NM_000019.3:c.2T>A, NM_000019.3:c.410_417delCTCAAAGT, NM_000019.3:c.547G>A, NM_000019.3:c.622C>T, N[...]	Beta-ketothiolase deficiency follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the ACAT1 gene located on chromosomal region 11q22.3. The age of onset is neo[...]
ACAT1	Beta-ketothiolase deficiency	NM_000019.3	NM_000019.3:c.1035_1037delAGA, NM_000019.3:c.1083dupA, NM_000019.3:c.1136G>T, NM_000019.3:c.1138G>A, NM_000019.3:c.2T>A, NM_000019.3:c.410_417delCTCAAAGT, NM_000019.3:c.547G>A, NM_000019.3:c.622C>T, N[...]	Beta-ketothiolase deficiency follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the ACAT1 gene located on chromosomal region 11q22.3. The age of onset is neo[...]

CGT 250 v1
CGT 250 v2

Gene	Disease	Transcript	Mutations	Disease description
ABCA4	Cone-rod dystrophy type 3	NM_000350.2	NM_000350.2:c.3540_3555delGTCTAAGGGTTTCTCC, NM_000350.2:c.2616_2617delCT, NM_000350.2:c.4793C>A, NM_000350.2:c.6179T>G, NM_000350.2:c.1222C>T, NM_000350.2:c.763C>T	Cone rod dystrophy type 3 follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the ABCA4 gene located on chromosomal region 1p22. The age of onset is infantile[...]
ABCA4	Cone-rod dystrophy type 3	NM_000350.2	NM_000350.2:c.3540_3555delGTCTAAGGGTTTCTCC, NM_000350.2:c.2616_2617delCT, NM_000350.2:c.4793C>A, NM_000350.2:c.6179T>G, NM_000350.2:c.1222C>T, NM_000350.2:c.763C>T	Cone rod dystrophy type 3 follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the ABCA4 gene located on chromosomal region 1p22. The age of onset is infantile[...]
ABCA4	Retinitis pigmentosa type 19	NM_000350.2	NM_000350.2:c.1848delA	Retinitis pigmentosa type 19 follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the ABCA4 gene located on chromosomal region 1p22. The age of onset is variab[...]
ABCA4	Retinitis pigmentosa type 19	NM_000350.2	NM_000350.2:c.1848delA	Retinitis pigmentosa type 19 follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the ABCA4 gene located on chromosomal region 1p22. The age of onset is variab[...]
ABCA4	Stargardt disease type 1	NM_000350.2	NM_000350.2:c.1018T>G, NM_000350.2:c.4457C>T, NM_000350.2:c.1225delA, NM_000350.2:c.1622T>C, NM_000350.2:c.1715G>A, NM_000350.2:c.1755delA, NM_000350.2:c.1771delT, NM_000350.2:c.1804C>T, NM_000350.2:c[...]	Stargardt disease type 1 follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the ABCA4 gene located on chromosomal region 1p22. The age of onset is infantile.[...]
ABCA4	Stargardt disease type 1	NM_000350.2	NM_000350.2:c.1018T>G, NM_000350.2:c.4457C>T, NM_000350.2:c.1225delA, NM_000350.2:c.1622T>C, NM_000350.2:c.1715G>A, NM_000350.2:c.1755delA, NM_000350.2:c.1771delT, NM_000350.2:c.1804C>T, NM_000350.2:c[...]	Stargardt disease type 1 follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the ABCA4 gene located on chromosomal region 1p22. The age of onset is infantile.[...]
ACAD9	Acyl-CoA dehydrogenase type 9 deficiency	NM_014049.4	NM_014049.4:c.1240C>T, NM_014049.4:c.1249C>T, NM_014049.4:c.130T>A, NM_014049.4:c.1594C>T, NM_014049.4:c.23delT, NM_014049.4:c.358delT, NM_014049.4:c.797G>A, NM_014049.4:c.976G>C, NM_014049.4:c.453+1G[...]	Acyl-CoA dehydrogenase type 9 deficiency follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the ACAD9 gene located on chromosomal region 3q21.3. The age of o[...]
ACAD9	Acyl-CoA dehydrogenase type 9 deficiency	NM_014049.4	NM_014049.4:c.1240C>T, NM_014049.4:c.1249C>T, NM_014049.4:c.130T>A, NM_014049.4:c.1594C>T, NM_014049.4:c.23delT, NM_014049.4:c.358delT, NM_014049.4:c.797G>A, NM_014049.4:c.976G>C, NM_014049.4:c.453+1G[...]	Acyl-CoA dehydrogenase type 9 deficiency follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the ACAD9 gene located on chromosomal region 3q21.3. The age of o[...]
ACADM	Acyl-CoA dehydrogenase deficiency, medium-chain	NM_000016.5	NM_000016.5:c.1102_1105delTTAG, NM_000016.5:c.1232_1233delAA, NM_000016.5:c.287-2A>G, NM_000016.5:c.362C>T, NM_000016.5:c.447G>A, NM_000016.5:c.447G>T, NM_000016.5:c.449_452delCTGA, NM_000016.5:c.616C[...]	Medium chain acyl-CoA dehydrogenase deficiency follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the ACADM gene located on chromosomal region 1p31. The age [...]
ACADM	Acyl-CoA dehydrogenase deficiency, medium-chain	NM_000016.5	NM_000016.5:c.1102_1105delTTAG, NM_000016.5:c.1232_1233delAA, NM_000016.5:c.287-2A>G, NM_000016.5:c.362C>T, NM_000016.5:c.447G>A, NM_000016.5:c.447G>T, NM_000016.5:c.449_452delCTGA, NM_000016.5:c.616C[...]	Medium chain acyl-CoA dehydrogenase deficiency follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the ACADM gene located on chromosomal region 1p31. The age [...]
ACADS	Acyl-CoA dehydrogenase deficiency, short-chain	NM_000017.2	NM_000017.2:c.1095G>T, NM_000017.2:c.1108A>G, NM_000017.2:c.1147C>T, NM_000017.2:c.136C>T, NM_000017.2:c.319C>T, NM_000017.2:c.417G>C, NM_000017.2:c.529T>C, NM_000017.2:c.561_568delCAATGCCT, NM_000017[...]	Short chain acyl-CoA dehydrogenase deficiency follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the ACADS gene located on chromosomal region 12q24.31. The a[...]
ACADS	Acyl-CoA dehydrogenase deficiency, short-chain	NM_000017.2	NM_000017.2:c.1095G>T, NM_000017.2:c.1108A>G, NM_000017.2:c.1147C>T, NM_000017.2:c.136C>T, NM_000017.2:c.319C>T, NM_000017.2:c.417G>C, NM_000017.2:c.529T>C, NM_000017.2:c.561_568delCAATGCCT, NM_000017[...]	Short chain acyl-CoA dehydrogenase deficiency follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the ACADS gene located on chromosomal region 12q24.31. The a[...]
ACADSB	2-Methylbutyryl-CoA dehydrogenase deficiency	NM_001609.3	NM_001609.3:c.1159G>A, NM_001609.3:c.443C>T, NM_001609.3:c.763C>T, NM_001609.3:c.621G>A, NM_001609.3:c.303+1G>A	2-Methylbutyryl-CoA dehydrogenase deficiency follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the ACADSB gene located on chromosomal region 10q26.3. The ag[...]
ACADSB	2-Methylbutyryl-CoA dehydrogenase deficiency	NM_001609.3	NM_001609.3:c.1159G>A, NM_001609.3:c.443C>T, NM_001609.3:c.763C>T, NM_001609.3:c.621G>A, NM_001609.3:c.303+1G>A	2-Methylbutyryl-CoA dehydrogenase deficiency follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the ACADSB gene located on chromosomal region 10q26.3. The ag[...]
ACADVL	Very long chain acyl-CoA dehydrogenase deficiency	NM_000018.3	NM_000018.3:c.1096C>T, NM_000018.3:c.1097G>A, NM_000018.3:c.1106T>C, NM_000018.3:c.1141_1143delGAG, NM_000018.3:c.1182+1G>A, NM_000018.3:c.1357C>T, NM_000018.3:c.1360G>A, NM_000018.3:c.1375dupC, NM_00[...]	Very long chain acyl-CoA dehydrogenase deficiency follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the ACADVL gene located on chromosomal region 17p13.1. T[...]
ACADVL	Very long chain acyl-CoA dehydrogenase deficiency	NM_000018.3	NM_000018.3:c.1096C>T, NM_000018.3:c.1097G>A, NM_000018.3:c.1106T>C, NM_000018.3:c.1141_1143delGAG, NM_000018.3:c.1182+1G>A, NM_000018.3:c.1357C>T, NM_000018.3:c.1360G>A, NM_000018.3:c.1375dupC, NM_00[...]	Very long chain acyl-CoA dehydrogenase deficiency follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the ACADVL gene located on chromosomal region 17p13.1. T[...]
ACE	Renal tubular dysgenesis	NM_000789.3	NM_000789.3:c.1319_1322delTGGA, NM_000789.3:c.1510delC, NM_000789.3:c.3381-4C>T, NM_000789.3:c.798C>G, NM_000789.3:c.1486C>T, NM_000789.3:c.2371C>T, NM_000789.3:c.1587-2A>G	Renal tubular dysgenesis deficiency follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the ACE (chromosomal region 17q23.3), AGT (1q42.2) AGTR1 (3q24) and RE[...]
ACE	Renal tubular dysgenesis	NM_000789.3	NM_000789.3:c.1319_1322delTGGA, NM_000789.3:c.1510delC, NM_000789.3:c.3381-4C>T, NM_000789.3:c.798C>G, NM_000789.3:c.1486C>T, NM_000789.3:c.2371C>T, NM_000789.3:c.1587-2A>G	Renal tubular dysgenesis deficiency follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the ACE (chromosomal region 17q23.3), AGT (1q42.2) AGTR1 (3q24) and RE[...]
ADA	Adenosine deaminase deficiency	NM_000022.2	NM_000022.2:c.226C>T, NM_000022.2:c.632G>A, NM_000022.2:c.890C>A, NM_000022.2:c.247G>A, NM_000022.2:c.320T>C, NM_000022.2:c.872C>T, NM_000022.2:c.956_960delAAGAG, NM_000022.2:c.986C>T	Adenosine deaminase deficiency follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the ADA gene located on chromosomal region 20q13.12. The age of onset is ne[...]
ADA	Adenosine deaminase deficiency	NM_000022.2	NM_000022.2:c.226C>T, NM_000022.2:c.632G>A, NM_000022.2:c.890C>A, NM_000022.2:c.247G>A, NM_000022.2:c.320T>C, NM_000022.2:c.872C>T, NM_000022.2:c.956_960delAAGAG, NM_000022.2:c.986C>T	Adenosine deaminase deficiency follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the ADA gene located on chromosomal region 20q13.12. The age of onset is ne[...]

Gene	Disease	Transcript	Mutations	Disease description
ABCA4	Stargardt disease type 1; Cone-rod dystrophy type 3	NM_000350.2	NM_000350.2:c.6449G>A, NM_000350.2:c.6394G>T, NM_000350.2:c.6320G>A, NM_000350.2:c.6118C>T, NM_000350.2:c.6089G>A, NM_000350.2:c.5912T>G, NM_000350.2:c.5882G>A, NM_000350.2:c.5881G>A, NM_000350.2:c.58[...]	Stargardt disease type 1 follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the ABCA4 gene located on chromosomal region 1p22. The age of onset is infantile.[...]
ABCA4	Stargardt disease type 1; Cone-rod dystrophy type 3	NM_000350.2	NM_000350.2:c.6449G>A, NM_000350.2:c.6394G>T, NM_000350.2:c.6320G>A, NM_000350.2:c.6118C>T, NM_000350.2:c.6089G>A, NM_000350.2:c.5912T>G, NM_000350.2:c.5882G>A, NM_000350.2:c.5881G>A, NM_000350.2:c.58[...]	Stargardt disease type 1 follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the ABCA4 gene located on chromosomal region 1p22. The age of onset is infantile.[...]
ACAD9	Mitochondrial complex I deficiency due to ACAD9	NM_014049.4	NM_014049.4:c.23delT, NM_014049.4:c.130T>A, NM_014049.4:c.359delT, NM_014049.4:c.453+1G>A, NM_014049.4:c.797G>A, NM_014049.4:c.976G>C, NM_014049.4:c.1240C>T, NM_014049.4:c.1249C>T, NM_014049.4:c.1594C[...]	Mitochondrial complex I deficiency due to ACAD9 follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the ACAD9 gene located on chromosomal region 3q21.3. The a[...]
ACAD9	Mitochondrial complex I deficiency due to ACAD9	NM_014049.4	NM_014049.4:c.23delT, NM_014049.4:c.130T>A, NM_014049.4:c.359delT, NM_014049.4:c.453+1G>A, NM_014049.4:c.797G>A, NM_014049.4:c.976G>C, NM_014049.4:c.1240C>T, NM_014049.4:c.1249C>T, NM_014049.4:c.1594C[...]	Mitochondrial complex I deficiency due to ACAD9 follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the ACAD9 gene located on chromosomal region 3q21.3. The a[...]
ACADM	Medium-chain acyl-CoA dehydrogenase deficiency	NM_001286043.1	NM_001286043.1:c.250C>T, NM_001286043.1:c.386-2A>G, NM_001286043.1:c.461C>T, NM_001286043.1:c.548_551delCTGA, NM_001286043.1:c.546G>A, NM_001286043.1:c.715C>T, NM_001286043.1:c.716G>A, NM_001286043.1:[...]	Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the ACADM gene located on chromosomal region 1p31. [...]
ACADM	Medium-chain acyl-CoA dehydrogenase deficiency	NM_001286043.1	NM_001286043.1:c.250C>T, NM_001286043.1:c.386-2A>G, NM_001286043.1:c.461C>T, NM_001286043.1:c.548_551delCTGA, NM_001286043.1:c.546G>A, NM_001286043.1:c.715C>T, NM_001286043.1:c.716G>A, NM_001286043.1:[...]	Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the ACADM gene located on chromosomal region 1p31. [...]
ACADS	Short-chain acyl-CoA dehydrogenase deficiency	NM_000017.3	NM_000017.3:c.136C>T, NM_000017.3:c.319C>T, NM_000017.3:c.417G>C, NM_000017.3:c.529T>C, NM_000017.3:c.561_568delCAATGCCT, NM_000017.3:c.1095G>T, NM_000017.3:c.1147C>T	Short-chain acyl-CoA dehydrogenase deficiency follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the ACADS gene located on chromosomal region 12q24.31. The a[...]
ACADS	Short-chain acyl-CoA dehydrogenase deficiency	NM_000017.3	NM_000017.3:c.136C>T, NM_000017.3:c.319C>T, NM_000017.3:c.417G>C, NM_000017.3:c.529T>C, NM_000017.3:c.561_568delCAATGCCT, NM_000017.3:c.1095G>T, NM_000017.3:c.1147C>T	Short-chain acyl-CoA dehydrogenase deficiency follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the ACADS gene located on chromosomal region 12q24.31. The a[...]
ACADSB	Short/branched-chain acyl-CoA dehydrogenase deficiency	NM_001609.3	NM_001609.3:c.303+1G>A, NM_001609.3:c.443C>T, NM_001609.3:c.621G>A, NM_001609.3:c.763C>T	Short/branched-chain acyl-CoA dehydrogenase deficiency follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the ACADSB gene located on chromosomal region 10q26[...]
ACADSB	Short/branched-chain acyl-CoA dehydrogenase deficiency	NM_001609.3	NM_001609.3:c.303+1G>A, NM_001609.3:c.443C>T, NM_001609.3:c.621G>A, NM_001609.3:c.763C>T	Short/branched-chain acyl-CoA dehydrogenase deficiency follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the ACADSB gene located on chromosomal region 10q26[...]
ACADVL	Very long-chain acyl-CoA dehydrogenase deficiency	NM_001270447.1	NM_001270447.1:c.347-1G>A, NM_001270447.1:c.367_368delCA, NM_001270447.1:c.412delG, NM_001270447.1:c.469C>T, NM_001270447.1:c.546+1G>C, NM_001270447.1:c.589G>A, NM_001270447.1:c.754C>T, NM_001270447.1[...]	Very long-chain acyl-CoA dehydrogenase deficiency follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the ACADVL gene located on chromosomal region 17p13.1. T[...]
ACADVL	Very long-chain acyl-CoA dehydrogenase deficiency	NM_001270447.1	NM_001270447.1:c.347-1G>A, NM_001270447.1:c.367_368delCA, NM_001270447.1:c.412delG, NM_001270447.1:c.469C>T, NM_001270447.1:c.546+1G>C, NM_001270447.1:c.589G>A, NM_001270447.1:c.754C>T, NM_001270447.1[...]	Very long-chain acyl-CoA dehydrogenase deficiency follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the ACADVL gene located on chromosomal region 17p13.1. T[...]
ACE	Renal tubular dysgenesis	NM_000789.3	NM_000789.3:c.798C>G, NM_000789.3:c.1319_1322delTGGA, NM_000789.3:c.1486C>T, NM_000789.3:c.1511delC, NM_000789.3:c.1587-2A>G, NM_000789.3:c.2371C>T	Renal tubular dysgenesis deficiency follows an autosomal recessive pattern of inheritance and the most common cause are pathogenic variants in the ACE (chromosomal region 17q23.3). The age of onset is[...]
ACE	Renal tubular dysgenesis	NM_000789.3	NM_000789.3:c.798C>G, NM_000789.3:c.1319_1322delTGGA, NM_000789.3:c.1486C>T, NM_000789.3:c.1511delC, NM_000789.3:c.1587-2A>G, NM_000789.3:c.2371C>T	Renal tubular dysgenesis deficiency follows an autosomal recessive pattern of inheritance and the most common cause are pathogenic variants in the ACE (chromosomal region 17q23.3). The age of onset is[...]
ADA	Adenosine deaminase deficiency / Severe combined immunodeficiency due to ADA deficiency	NM_000022.3	NM_000022.3:c.986C>T, NM_000022.3:c.956_960delAAGAG, NM_000022.3:c.890C>A, NM_000022.3:c.872C>T, NM_000022.3:c.632G>A, NM_000022.3:c.320T>C	Adenosine deaminase deficiency follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the ADA gene located on chromosomal region 20q13.12. The age of onset is ne[...]
ADA	Adenosine deaminase deficiency / Severe combined immunodeficiency due to ADA deficiency	NM_000022.3	NM_000022.3:c.986C>T, NM_000022.3:c.956_960delAAGAG, NM_000022.3:c.890C>A, NM_000022.3:c.872C>T, NM_000022.3:c.632G>A, NM_000022.3:c.320T>C	Adenosine deaminase deficiency follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the ADA gene located on chromosomal region 20q13.12. The age of onset is ne[...]
ADGRV1	Usher syndrome, type 2C	NM_032119.3	NM_032119.3:c.2258_2270delAAGTGCTGAAATC, NM_032119.3:c.2864C>A, NM_032119.3:c.5357_5358delAA, NM_032119.3:c.6275-1G>A, NM_032119.3:c.6312dupT, NM_032119.3:c.6901C>T, NM_032119.3:c.8713_8716dupAACA, NM[...]	Usher syndrome type 2C follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the ADGRV1 and PDZD7 genes located on chromosomal regions 5q14.3 and 10q24.32 respe[...]
ADGRV1	Usher syndrome, type 2C	NM_032119.3	NM_032119.3:c.2258_2270delAAGTGCTGAAATC, NM_032119.3:c.2864C>A, NM_032119.3:c.5357_5358delAA, NM_032119.3:c.6275-1G>A, NM_032119.3:c.6312dupT, NM_032119.3:c.6901C>T, NM_032119.3:c.8713_8716dupAACA, NM[...]	Usher syndrome type 2C follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the ADGRV1 and PDZD7 genes located on chromosomal regions 5q14.3 and 10q24.32 respe[...]
AGL	Glycogen storage disease type 3	NM_000028.2	NM_000028.2:c.16C>T, NM_000028.2:c.18_19delGA, NM_000028.2:c.294-2A>T, NM_000028.2:c.1222C>T, NM_000028.2:c.1485delT, NM_000028.2:c.1783C>T, NM_000028.2:c.1999delC, NM_000028.2:c.2039G>A, NM_000028.2:[...]	Glycogen storage disease (GSD) type 3 follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the AGL gene located on chromosomal region 1p21.2. The age of onset [...]
AGL	Glycogen storage disease type 3	NM_000028.2	NM_000028.2:c.16C>T, NM_000028.2:c.18_19delGA, NM_000028.2:c.294-2A>T, NM_000028.2:c.1222C>T, NM_000028.2:c.1485delT, NM_000028.2:c.1783C>T, NM_000028.2:c.1999delC, NM_000028.2:c.2039G>A, NM_000028.2:[...]	Glycogen storage disease (GSD) type 3 follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the AGL gene located on chromosomal region 1p21.2. The age of onset [...]

Current version
Historic versions

id	gene	OMIM (gene)	Disease name (phenotype)	Inheritance
1	CFTR	602421	Cystic fibrosis	Autosomal recessive
1	CFTR	602421	Cystic fibrosis	Autosomal recessive
2	FMR1	309550	Fragile X syndrome	X-linked
2	FMR1	309550	Fragile X syndrome	X-linked
3	G6PD	305900	Hemolytic anemia, G6PD deficient (favism)	X-linked
3	G6PD	305900	Hemolytic anemia, G6PD deficient (favism)	X-linked
4	GJB2	121011	Deafness, autosomal recessive, type 1A	Autosomal recessive
4	GJB2	121011	Deafness, autosomal recessive, type 1A	Autosomal recessive
5	HBA1	141800	Thalassemia, alpha-	Autosomal recessive
5	HBA1	141800	Thalassemia, alpha-	Autosomal recessive
6	HBA2	141850	Thalassemia, alpha-	Autosomal recessive
6	HBA2	141850	Thalassemia, alpha-	Autosomal recessive
7	HBB	141900	HBB-related hemoglobinopathy	Autosomal recessive
7	HBB	141900	HBB-related hemoglobinopathy	Autosomal recessive
8	SMN1	600354	Spinal muscular atrophy	Autosomal recessive
8	SMN1	600354	Spinal muscular atrophy	Autosomal recessive

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Historic versions

chrom	OMIM (gene)	Gene	OMIM (phen)	DISEASE	MOI
1	607008	ACADM	201450	Medium-chain acyl-CoA dehydrogenase deficiency	Autosomal recessive
1	607008	ACADM	201450	Medium-chain acyl-CoA dehydrogenase deficiency	Autosomal recessive
2	604285	AGXT	259900	Hyperoxaluria, primary, type 1	Autosomal recessive
2	604285	AGXT	259900	Hyperoxaluria, primary, type 1	Autosomal recessive
22	607574	ARSA	250100	Metachromatic leukodystrophy	Autosomal recessive
22	607574	ARSA	250100	Metachromatic leukodystrophy	Autosomal recessive
3	609019	BTD	253260	Biotinidase deficiency	Autosomal recessive
3	609019	BTD	253260	Biotinidase deficiency	Autosomal recessive
21	613381	CBS	236200	Homocystinuria due to cystathionine beta-synthase	Autosomal recessive
21	613381	CBS	236200	Homocystinuria due to cystathionine beta-synthase	Autosomal recessive
7	602421	CFTR	219700	Cystic fibrosis	Autosomal recessive
7	602421	CFTR	219700	Cystic fibrosis	Autosomal recessive
11	602858	DHCR7	270400	Smith-Lemli-Opitz syndrome	Autosomal recessive
11	602858	DHCR7	270400	Smith-Lemli-Opitz syndrome	Autosomal recessive
X	300384	EMD	310300	Emery-Dreifuss muscular dystrophy, type 1, X-linked	X-linked
X	300384	EMD	310300	Emery-Dreifuss muscular dystrophy, type 1, X-linked	X-linked
X	309550	FMR1	300624	Fragile X syndrome	X-linked
X	309550	FMR1	300624	Fragile X syndrome	X-linked
X	305900	G6PD	300908	Hemolytic anemia, G6PD deficient (favism)	X-linked
X	305900	G6PD	300908	Hemolytic anemia, G6PD deficient (favism)	X-linked

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