CGT: Tests list
Select your test and find the gene, mutations and diseases related to them.
- CGT Exome
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id | chrom | OMIM (gene) | gene | previous | OMIM (phen) | disease name (phenotype) | inheritance |
|---|---|---|---|---|---|---|---|
| 1 | 12 | 605378 | AAAS | 231550 | Triple-A syndrome (achalasia-addisonianism-alacrimia) | Autosomal recessive | |
| 1 | 12 | 605378 | AAAS | 231550 | Triple-A syndrome (achalasia-addisonianism-alacrimia) | Autosomal recessive | |
| 2 | 16 | 601065 | AARS1 | AARS | 616339 | Epileptic encephalopathy, early infantile, type 29 | Autosomal recessive |
| 2 | 16 | 601065 | AARS1 | AARS | 616339 | Epileptic encephalopathy, early infantile, type 29 | Autosomal recessive |
| 3 | 6 | 612035 | AARS2 | 614096; 615889 | Combined oxidative phosphorylation deficiency 8; Leukoencephalopathy, progressive, with ovarian failure | Autosomal recessive | |
| 3 | 6 | 612035 | AARS2 | 614096; 615889 | Combined oxidative phosphorylation deficiency 8; Leukoencephalopathy, progressive, with ovarian failure | Autosomal recessive | |
| 4 | 7 | 605113 | AASS | 238700; 268700 | Hyperlysinemia, type 1 and type 2 | Autosomal recessive | |
| 4 | 7 | 605113 | AASS | 238700; 268700 | Hyperlysinemia, type 1 and type 2 | Autosomal recessive | |
| 5 | 16 | 137150 | ABAT | 613163 | GABA-transaminase deficiency | Autosomal recessive | |
| 5 | 16 | 137150 | ABAT | 613163 | GABA-transaminase deficiency | Autosomal recessive | |
| 6 | 9 | 600046 | ABCA1 | 205400 | Tangier disease | Autosomal recessive | |
| 6 | 9 | 600046 | ABCA1 | 205400 | Tangier disease | Autosomal recessive | |
| 7 | 2 | 607800 | ABCA12 | 601277; 242500 | Ichthyosis, congenital, autosomal recessive, type 4A; ICAR, type 4B (harlequin) | Autosomal recessive | |
| 7 | 2 | 607800 | ABCA12 | 601277; 242500 | Ichthyosis, congenital, autosomal recessive, type 4A; ICAR, type 4B (harlequin) | Autosomal recessive | |
| 8 | 16 | 601615 | ABCA3 | 610921 | Surfactant metabolism dysfunction, pulmonary, type 3 | Autosomal recessive | |
| 8 | 16 | 601615 | ABCA3 | 610921 | Surfactant metabolism dysfunction, pulmonary, type 3 | Autosomal recessive | |
| 9 | 1 | 601691 | ABCA4 | 248200; 604116 | Stargardt disease type 1; Cone-rod dystrophy type 3 | Autosomal recessive | |
| 9 | 1 | 601691 | ABCA4 | 248200; 604116 | Stargardt disease type 1; Cone-rod dystrophy type 3 | Autosomal recessive | |
| 10 | 2 | 603201 | ABCB11 | 605479; 601847 | Cholestasis, benign recurrent intrahepatic, type 2; Cholestasis, progressive familial intrahepatic, type 2 | Autosomal recessive | |
| 10 | 2 | 603201 | ABCB11 | 605479; 601847 | Cholestasis, benign recurrent intrahepatic, type 2; Cholestasis, progressive familial intrahepatic, type 2 | Autosomal recessive |
|
chrom | OMIM gene | gene | previous | OMIM (phen) | disease name (phenotype) | inheritance |
|---|---|---|---|---|---|---|
| 12 | 605378 | AAAS | 231550 | Triple-A syndrome (achalasia-addisonianism-alacrimia) | Autosomal recessive | |
| 12 | 605378 | AAAS | 231550 | Triple-A syndrome (achalasia-addisonianism-alacrimia) | Autosomal recessive | |
| 2 | 607800 | ABCA12 | 601277; 242500 | Ichthyosis, congenital, autosomal recessive, type 4A; ICAR, type 4B (harlequin) | Autosomal recessive | |
| 2 | 607800 | ABCA12 | 601277; 242500 | Ichthyosis, congenital, autosomal recessive, type 4A; ICAR, type 4B (harlequin) | Autosomal recessive | |
| 16 | 601615 | ABCA3 | 610921 | Surfactant metabolism dysfunction, pulmonary, type 3 | Autosomal recessive | |
| 16 | 601615 | ABCA3 | 610921 | Surfactant metabolism dysfunction, pulmonary, type 3 | Autosomal recessive | |
| 1 | 601691 | ABCA4 | 248200; 604116 | Stargardt disease type 1; Cone-rod dystrophy type 3 | Autosomal recessive | |
| 1 | 601691 | ABCA4 | 248200; 604116 | Stargardt disease type 1; Cone-rod dystrophy type 3 | Autosomal recessive | |
| 2 | 603201 | ABCB11 | 605479; 601847 | Cholestasis, benign recurrent intrahepatic, type 2; Cholestasis, progressive familial intrahepatic, type 2 | Autosomal recessive | |
| 2 | 603201 | ABCB11 | 605479; 601847 | Cholestasis, benign recurrent intrahepatic, type 2; Cholestasis, progressive familial intrahepatic, type 2 | Autosomal recessive | |
| 11 | 600509 | ABCC8 | 256450*; 606176* | Hyperinsulinemic hypoglycemia, type 1 (congenital hyperinsulinism); Permanent neonatal diabetes mellitus (PNDM) | Autosomal recessive* | |
| 11 | 600509 | ABCC8 | 256450*; 606176* | Hyperinsulinemic hypoglycemia, type 1 (congenital hyperinsulinism); Permanent neonatal diabetes mellitus (PNDM) | Autosomal recessive* | |
| X | 300371 | ABCD1 | 300100 | Adrenoleukodystrophy | X-linked | |
| X | 300371 | ABCD1 | 300100 | Adrenoleukodystrophy | X-linked | |
| 14 | 603214 | ABCD4 | 614857 | Methylmalonic aciduria and homocystinuria, cblJ type | Autosomal recessive | |
| 14 | 603214 | ABCD4 | 614857 | Methylmalonic aciduria and homocystinuria, cblJ type | Autosomal recessive | |
| 11 | 604773 | ACAD8 | 611283 | Isobutyryl-CoA dehydrogenase deficiency | Autosomal recessive | |
| 11 | 604773 | ACAD8 | 611283 | Isobutyryl-CoA dehydrogenase deficiency | Autosomal recessive | |
| 3 | 611103 | ACAD9 | 611126 | Acyl-CoA dehydrogenase 9 deficiency (mitochondrial complex I deficiency, nuclear, type 20) | Autosomal recessive | |
| 3 | 611103 | ACAD9 | 611126 | Acyl-CoA dehydrogenase 9 deficiency (mitochondrial complex I deficiency, nuclear, type 20) | Autosomal recessive |
|
chrom | OMIM (gene) | gene | previous symbol | OMIM (phen) | disease name (phenotype) | inheritance |
|---|---|---|---|---|---|---|
| X | 300371 | ABCD1 | 300100 | Adrenoleukodystrophy | X-linked | |
| X | 300371 | ABCD1 | 300100 | Adrenoleukodystrophy | X-linked | |
| X | 300629 | AP1S2 | 304340 | Mental retardation, X-linked, syndromic, type 5 (Pettigrew syndrome) | X-linked | |
| X | 300629 | AP1S2 | 304340 | Mental retardation, X-linked, syndromic, type 5 (Pettigrew syndrome) | X-linked | |
| X | 313700 | AR | 300068 | Androgen insensitivity syndrome, complete | X-linked | |
| X | 313700 | AR | 300068 | Androgen insensitivity syndrome, complete | X-linked | |
| X | 300180 | ARSL | ARSE | 302950 | Chondrodysplasia punctata, brachytelephalangic | X-linked |
| X | 300180 | ARSL | ARSE | 302950 | Chondrodysplasia punctata, brachytelephalangic | X-linked |
| X | 300382 | ARX | 308350; 300215; 309510 | Epileptic encephalopathy, early infantile, type 1; ARX-related developmental disorders | X-linked | |
| X | 300382 | ARX | 308350; 300215; 309510 | Epileptic encephalopathy, early infantile, type 1; ARX-related developmental disorders | X-linked | |
| X | 300011 | ATP7A | 309400; 304150 | Menkes disease; Occipital horn syndrome | X-linked | |
| X | 300011 | ATP7A | 309400; 304150 | Menkes disease; Occipital horn syndrome | X-linked | |
| X | 300504 | ATRX | 309580; 301040 | Mental retardation-hypotonic facies syndrome, X-linked; Alpha-thalassemia/mental retardation syndrome | X-linked | |
| X | 300504 | ATRX | 309580; 301040 | Mental retardation-hypotonic facies syndrome, X-linked; Alpha-thalassemia/mental retardation syndrome | X-linked | |
| X | 300553 | BRWD3 | 300659 | Mental retardation, X-linked, type 93 | X-linked | |
| X | 300553 | BRWD3 | 300659 | Mental retardation, X-linked, type 93 | X-linked | |
| X | 300300 | BTK | 300755 | Agammaglobulinemia X-linked, type 1 | X-linked | |
| X | 300300 | BTK | 300755 | Agammaglobulinemia X-linked, type 1 | X-linked | |
| X | 300386 | CD40LG | 308230 | Hyper-IgM syndrome, type 1 (immunodeficiency, X-linked, with hyper-IgM, type 1) | X-linked | |
| X | 300386 | CD40LG | 308230 | Hyper-IgM syndrome, type 1 (immunodeficiency, X-linked, with hyper-IgM, type 1) | X-linked |
|
chrom | OMIM (gene) | gene | previous | OMIM (phen) | disease name (phenotype) | inheritance |
|---|---|---|---|---|---|---|
| 12 | 605378 | AAAS | 231550 | Triple-A syndrome (achalasia-addisonianism-alacrimia) | Autosomal recessive | |
| 12 | 605378 | AAAS | 231550 | Triple-A syndrome (achalasia-addisonianism-alacrimia) | Autosomal recessive | |
| 2 | 607800 | ABCA12 | 601277; 242500 | Ichthyosis, congenital, autosomal recessive, type 4A; ICAR, type 4B (harlequin) | Autosomal recessive | |
| 2 | 607800 | ABCA12 | 601277; 242500 | Ichthyosis, congenital, autosomal recessive, type 4A; ICAR, type 4B (harlequin) | Autosomal recessive | |
| 1 | 601691 | ABCA4 | 248200; 604116 | Stargardt disease type 1; Cone-rod dystrophy type 3 | Autosomal recessive | |
| 1 | 601691 | ABCA4 | 248200; 604116 | Stargardt disease type 1; Cone-rod dystrophy type 3 | Autosomal recessive | |
| 2 | 603201 | ABCB11 | 605479; 601847 | Cholestasis, benign recurrent intrahepatic, type 2; Cholestasis, progressive familial intrahepatic, type 2 | Autosomal recessive | |
| 2 | 603201 | ABCB11 | 605479; 601847 | Cholestasis, benign recurrent intrahepatic, type 2; Cholestasis, progressive familial intrahepatic, type 2 | Autosomal recessive | |
| 11 | 600509 | ABCC8 | 256450*; 606176* | Hyperinsulinemic hypoglycemia, type 1 (congenital hyperinsulinism); Permanent neonatal diabetes mellitus (PNDM) | Autosomal recessive* | |
| 11 | 600509 | ABCC8 | 256450*; 606176* | Hyperinsulinemic hypoglycemia, type 1 (congenital hyperinsulinism); Permanent neonatal diabetes mellitus (PNDM) | Autosomal recessive* | |
| X | 300371 | ABCD1 | 300100 | Adrenoleukodystrophy | X-linked | |
| X | 300371 | ABCD1 | 300100 | Adrenoleukodystrophy | X-linked | |
| 14 | 603214 | ABCD4 | 614857 | Methylmalonic aciduria and homocystinuria, cblJ type | Autosomal recessive | |
| 14 | 603214 | ABCD4 | 614857 | Methylmalonic aciduria and homocystinuria, cblJ type | Autosomal recessive | |
| 11 | 604773 | ACAD8 | 611283 | Isobutyryl-CoA dehydrogenase deficiency | Autosomal recessive | |
| 11 | 604773 | ACAD8 | 611283 | Isobutyryl-CoA dehydrogenase deficiency | Autosomal recessive | |
| 3 | 611103 | ACAD9 | 611126 | Acyl-CoA dehydrogenase 9 deficiency (mitochondrial complex I deficiency, nuclear, type 20) | Autosomal recessive | |
| 3 | 611103 | ACAD9 | 611126 | Acyl-CoA dehydrogenase 9 deficiency (mitochondrial complex I deficiency, nuclear, type 20) | Autosomal recessive | |
| 1 | 607008 | ACADM | 201450 | Medium-chain acyl-CoA dehydrogenase deficiency | Autosomal recessive | |
| 1 | 607008 | ACADM | 201450 | Medium-chain acyl-CoA dehydrogenase deficiency | Autosomal recessive |
|
chrom | OMIM (gene) | gene | previous | OMIM (phen) | disease name (phenotype) | inheritance |
|---|---|---|---|---|---|---|
| X | 300371 | ABCD1 | 300100 | Adrenoleukodystrophy | X-linked | |
| X | 300371 | ABCD1 | 300100 | Adrenoleukodystrophy | X-linked | |
| 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 | |
| X | 300629 | AP1S2 | 304340 | Mental retardation, X-linked, syndromic, type 5 (Pettigrew syndrome) | X-linked | |
| X | 300629 | AP1S2 | 304340 | Mental retardation, X-linked, syndromic, type 5 (Pettigrew syndrome) | X-linked | |
| X | 313700 | AR | 300068 | Androgen insensitivity syndrome, complete | X-linked | |
| X | 313700 | AR | 300068 | Androgen insensitivity syndrome, complete | X-linked | |
| 22 | 607574 | ARSA | 250100 | Metachromatic leukodystrophy | Autosomal recessive | |
| 22 | 607574 | ARSA | 250100 | Metachromatic leukodystrophy | Autosomal recessive | |
| X | 300180 | ARSL | ARSE | 302950 | Chondrodysplasia punctata, brachytelephalangic | X-linked |
| X | 300180 | ARSL | ARSE | 302950 | Chondrodysplasia punctata, brachytelephalangic | X-linked |
| X | 300382 | ARX | 308350; 300215; 309510 | Epileptic encephalopathy, early infantile, type 1; ARX-related developmental disorders | X-linked | |
| X | 300382 | ARX | 308350; 300215; 309510 | Epileptic encephalopathy, early infantile, type 1; ARX-related developmental disorders | X-linked | |
| X | 300011 | ATP7A | 309400; 304150 | Menkes disease; Occipital horn syndrome | X-linked | |
| X | 300011 | ATP7A | 309400; 304150 | Menkes disease; Occipital horn syndrome | X-linked | |
| X | 300504 | ATRX | 309580; 301040 | Mental retardation-hypotonic facies syndrome, X-linked; Alpha-thalassemia/mental retardation syndrome | X-linked | |
| X | 300504 | ATRX | 309580; 301040 | Mental retardation-hypotonic facies syndrome, X-linked; Alpha-thalassemia/mental retardation syndrome | X-linked |
|
chrom | OMIM (gene) | gene | previous symbol | OMIM (phenotype) | disease name (phenotype) | inheritance |
|---|---|---|---|---|---|---|
| 7 | 602421 | CFTR | 219700 | Cystic fibrosis | Autosomal recessive | |
| 7 | 602421 | CFTR | 219700 | Cystic fibrosis | Autosomal recessive | |
| X | 300377 | DMD | 310200; 300376 | Duchenne/Becker muscular dystrophy | X-linked | |
| X | 300377 | DMD | 310200; 300376 | Duchenne/Becker muscular dystrophy | 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 | |
| 13 | 121011 | GJB2 | 220290 | Deafness, autosomal recessive, type 1A; Deafness, digenic, GJB2/GJB6 | Autosomal recessive; Digenic inheritance (GJB6 gene) | |
| 13 | 121011 | GJB2 | 220290 | Deafness, autosomal recessive, type 1A; Deafness, digenic, GJB2/GJB6 | Autosomal recessive; Digenic inheritance (GJB6 gene) | |
| 16 | 141800 | HBA1 | 604131 | Thalassemia, alpha- | Autosomal recessive | |
| 16 | 141800 | HBA1 | 604131 | Thalassemia, alpha- | Autosomal recessive | |
| 16 | 141850 | HBA2 | 604131 | Thalassemia, alpha- | Autosomal recessive | |
| 16 | 141850 | HBA2 | 604131 | Thalassemia, alpha- | Autosomal recessive | |
| 11 | 141900 | HBB | 603903 | HBB-related hemoglobinopathy | Autosomal recessive | |
| 11 | 141900 | HBB | 603903 | HBB-related hemoglobinopathy | Autosomal recessive | |
| 15 | 606869 | HEXA | 272800 | Tay-Sachs disease | Autosomal recessive | |
| 15 | 606869 | HEXA | 272800 | Tay-Sachs disease | Autosomal recessive | |
| 5 | 600354 | SMN1 | 253300 | Spinal muscular atrophy | Autosomal recessive | |
| 5 | 600354 | SMN1 | 253300 | Spinal muscular atrophy | Autosomal recessive |
chrom | OMIM (gene) | gene | previous symbol | OMIM (phen) | disease name (phenotype) | inheritance |
|---|---|---|---|---|---|---|
| X | 300371 | ABCD1 | 300100 | Adrenoleukodystrophy | X-linked | |
| X | 300371 | ABCD1 | 300100 | Adrenoleukodystrophy | X-linked | |
| X | 300629 | AP1S2 | 304340 | Mental retardation, X-linked, syndromic, type 5 (Pettigrew syndrome) | X-linked | |
| X | 300629 | AP1S2 | 304340 | Mental retardation, X-linked, syndromic, type 5 (Pettigrew syndrome) | X-linked | |
| X | 313700 | AR | 300068 | Androgen insensitivity syndrome, complete | X-linked | |
| X | 313700 | AR | 300068 | Androgen insensitivity syndrome, complete | X-linked | |
| X | 300180 | ARSL | ARSE | 302950 | Chondrodysplasia punctata, brachytelephalangic | X-linked |
| X | 300180 | ARSL | ARSE | 302950 | Chondrodysplasia punctata, brachytelephalangic | X-linked |
| X | 300382 | ARX | 308350; 300215; 309510 | Epileptic encephalopathy, early infantile, type 1; ARX-related developmental disorders | X-linked | |
| X | 300382 | ARX | 308350; 300215; 309510 | Epileptic encephalopathy, early infantile, type 1; ARX-related developmental disorders | X-linked | |
| X | 300011 | ATP7A | 309400; 304150 | Menkes disease; Occipital horn syndrome | X-linked | |
| X | 300011 | ATP7A | 309400; 304150 | Menkes disease; Occipital horn syndrome | X-linked | |
| X | 300504 | ATRX | 309580; 301040 | Mental retardation-hypotonic facies syndrome, X-linked; Alpha-thalassemia/mental retardation syndrome | X-linked | |
| X | 300504 | ATRX | 309580; 301040 | Mental retardation-hypotonic facies syndrome, X-linked; Alpha-thalassemia/mental retardation syndrome | X-linked | |
| X | 300553 | BRWD3 | 300659 | Mental retardation, X-linked, type 93 | X-linked | |
| X | 300553 | BRWD3 | 300659 | Mental retardation, X-linked, type 93 | X-linked | |
| X | 300300 | BTK | 300755 | Agammaglobulinemia X-linked, type 1 | X-linked | |
| X | 300300 | BTK | 300755 | Agammaglobulinemia X-linked, type 1 | X-linked | |
| X | 300386 | CD40LG | 308230 | Hyper-IgM syndrome, type 1 (immunodeficiency, X-linked, with hyper-IgM, type 1) | X-linked | |
| X | 300386 | CD40LG | 308230 | Hyper-IgM syndrome, type 1 (immunodeficiency, X-linked, with hyper-IgM, type 1) | X-linked |
|
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[...] |
|
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.[...] |
| ABCB7 | X-linked sideroblastic anemia and ataxia (XLSA/A) | NM_004299.4 | NM_004299.4:c.1300G>A, NM_004299.4:c.1234G>C, NM_004299.4:c.1203T>G | XLSA/A is caused by pathogenic variants in the ABCB7 gene located on chromosomal region Xq13.3. The age of onset is neonatal/infantile. XLSA/A is a rare condition characterized by a blood disorder cal[...] |
| ABCB7 | X-linked sideroblastic anemia and ataxia (XLSA/A) | NM_004299.4 | NM_004299.4:c.1300G>A, NM_004299.4:c.1234G>C, NM_004299.4:c.1203T>G | XLSA/A is caused by pathogenic variants in the ABCB7 gene located on chromosomal region Xq13.3. The age of onset is neonatal/infantile. XLSA/A is a rare condition characterized by a blood disorder cal[...] |
| 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[...] |
| ACAT1 | Alpha-methylacetoacetic aciduria | NM_000019.3 | NM_000019.3:c.2T>A, NM_000019.3:c.412_419delCAAAGTCT, NM_000019.3:c.547G>A, NM_000019.3:c.622C>T, NM_000019.3:c.905delA, NM_000019.3:c.1035_1037delAGA, NM_000019.3:c.1083dupA, NM_000019.3:c.1136G>T, N[...] | Alpha-methylacetoacetic aciduria, also known as 3-ketothiolase deficiency, is an inborn error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylace[...] |
| ACAT1 | Alpha-methylacetoacetic aciduria | NM_000019.3 | NM_000019.3:c.2T>A, NM_000019.3:c.412_419delCAAAGTCT, NM_000019.3:c.547G>A, NM_000019.3:c.622C>T, NM_000019.3:c.905delA, NM_000019.3:c.1035_1037delAGA, NM_000019.3:c.1083dupA, NM_000019.3:c.1136G>T, N[...] | Alpha-methylacetoacetic aciduria, also known as 3-ketothiolase deficiency, is an inborn error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylace[...] |
| 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[...] |
| ACOX1 | Peroxisomal acyl-CoA oxidase deficiency | NM_004035.6 | NM_004035.6:c.832A>G, NM_004035.6:c.591delG, NM_004035.6:c.532G>T | Peroxisomal acyl-CoA oxidase deficiency follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the ACOX1 gene located on chromosomal region 17q25.1. The age of o[...] |
| ACOX1 | Peroxisomal acyl-CoA oxidase deficiency | NM_004035.6 | NM_004035.6:c.832A>G, NM_004035.6:c.591delG, NM_004035.6:c.532G>T | Peroxisomal acyl-CoA oxidase deficiency follows an autosomal recessive pattern of inheritance and is caused by pathogenic variants in the ACOX1 gene located on chromosomal region 17q25.1. The age of o[...] |
|
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 [...] |
|
Gene | Disease |
|---|---|
| CFTR | Cystic fibrosis |
| CFTR | Cystic fibrosis |
| FMR1 | Fragile X syndrome |
| FMR1 | Fragile X syndrome |
| G6PD | Hemolytic anemia, G6PD deficient (favism) |
| G6PD | Hemolytic anemia, G6PD deficient (favism) |
| GJB2 | Deafness, autosomal recessive, type 1A |
| GJB2 | Deafness, autosomal recessive, type 1A |
| HBA1 | Thalassemia, alpha- |
| HBA1 | Thalassemia, alpha- |
| HBA2 | Thalassemia, alpha- |
| HBA2 | Thalassemia, alpha- |
| HBB | HBB-related hemoglobinopathy |
| HBB | HBB-related hemoglobinopathy |
| SMN1 | Spinal muscular atrophy |
| SMN1 | Spinal muscular atrophy |
chrom | OMIM (gene) | Gene | Previous symbol | 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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