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Genetic Solutions > CGT > CGT List

CGT: Tests list

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

  • CGT Exome
  • CGT Plus
  • CGT Bank
  • Other CGT
  • CGT 600
  • CGT 250
  • CGT Basic
  • CGT Essential
  • CGT Exome v3.2.3
  • Historic Versions

id
chrom
OMIM (gene)
gene
previous
OMIM (phen)
disease name (phenotype)
inheritance
112605378AAAS231550Triple-A syndrome (achalasia-addisonianism-alacrimia)Autosomal recessive
112605378AAAS231550Triple-A syndrome (achalasia-addisonianism-alacrimia)Autosomal recessive
216601065AARS1AARS616339Epileptic encephalopathy, early infantile, type 29Autosomal recessive
216601065AARS1AARS616339Epileptic encephalopathy, early infantile, type 29Autosomal recessive
36612035AARS2614096; 615889Combined oxidative phosphorylation deficiency 8; Leukoencephalopathy, progressive, with ovarian failureAutosomal recessive
36612035AARS2614096; 615889Combined oxidative phosphorylation deficiency 8; Leukoencephalopathy, progressive, with ovarian failureAutosomal recessive
47605113AASS238700; 268700Hyperlysinemia, type 1 and type 2Autosomal recessive
47605113AASS238700; 268700Hyperlysinemia, type 1 and type 2Autosomal recessive
516137150ABAT613163GABA-transaminase deficiencyAutosomal recessive
516137150ABAT613163GABA-transaminase deficiencyAutosomal recessive
69600046ABCA1205400Tangier diseaseAutosomal recessive
69600046ABCA1205400Tangier diseaseAutosomal recessive
72607800ABCA12601277; 242500Ichthyosis, congenital, autosomal recessive, type 4A; ICAR, type 4B (harlequin)Autosomal recessive
72607800ABCA12601277; 242500Ichthyosis, congenital, autosomal recessive, type 4A; ICAR, type 4B (harlequin)Autosomal recessive
816601615ABCA3610921Surfactant metabolism dysfunction, pulmonary, type 3Autosomal recessive
816601615ABCA3610921Surfactant metabolism dysfunction, pulmonary, type 3Autosomal recessive
91601691ABCA4248200; 604116Stargardt disease type 1; Cone-rod dystrophy type 3Autosomal recessive
91601691ABCA4248200; 604116Stargardt disease type 1; Cone-rod dystrophy type 3Autosomal recessive
102603201ABCB11605479; 601847Cholestasis, benign recurrent intrahepatic, type 2; Cholestasis, progressive familial intrahepatic, type 2Autosomal recessive
102603201ABCB11605479; 601847Cholestasis, benign recurrent intrahepatic, type 2; Cholestasis, progressive familial intrahepatic, type 2Autosomal recessive
|

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  • CGT Plus v3.2.3
  • Historic Versions

chrom
OMIM gene
gene
previous
OMIM (phen)
disease name (phenotype)
inheritance
12605378AAAS231550Triple-A syndrome (achalasia-addisonianism-alacrimia)Autosomal recessive
12605378AAAS231550Triple-A syndrome (achalasia-addisonianism-alacrimia)Autosomal recessive
2607800ABCA12601277; 242500Ichthyosis, congenital, autosomal recessive, type 4A; ICAR, type 4B (harlequin)Autosomal recessive
2607800ABCA12601277; 242500Ichthyosis, congenital, autosomal recessive, type 4A; ICAR, type 4B (harlequin)Autosomal recessive
16601615ABCA3610921Surfactant metabolism dysfunction, pulmonary, type 3Autosomal recessive
16601615ABCA3610921Surfactant metabolism dysfunction, pulmonary, type 3Autosomal recessive
1601691ABCA4248200; 604116Stargardt disease type 1; Cone-rod dystrophy type 3Autosomal recessive
1601691ABCA4248200; 604116Stargardt disease type 1; Cone-rod dystrophy type 3Autosomal recessive
2603201ABCB11605479; 601847Cholestasis, benign recurrent intrahepatic, type 2; Cholestasis, progressive familial intrahepatic, type 2Autosomal recessive
2603201ABCB11605479; 601847Cholestasis, benign recurrent intrahepatic, type 2; Cholestasis, progressive familial intrahepatic, type 2Autosomal recessive
11600509ABCC8256450*; 606176*Hyperinsulinemic hypoglycemia, type 1 (congenital hyperinsulinism); Permanent neonatal diabetes mellitus (PNDM)Autosomal recessive*
11600509ABCC8256450*; 606176*Hyperinsulinemic hypoglycemia, type 1 (congenital hyperinsulinism); Permanent neonatal diabetes mellitus (PNDM)Autosomal recessive*
X300371ABCD1300100AdrenoleukodystrophyX-linked
X300371ABCD1300100AdrenoleukodystrophyX-linked
14603214ABCD4614857Methylmalonic aciduria and homocystinuria, cblJ typeAutosomal recessive
14603214ABCD4614857Methylmalonic aciduria and homocystinuria, cblJ typeAutosomal recessive
11604773ACAD8611283Isobutyryl-CoA dehydrogenase deficiencyAutosomal recessive
11604773ACAD8611283Isobutyryl-CoA dehydrogenase deficiencyAutosomal recessive
3611103ACAD9611126Acyl-CoA dehydrogenase 9 deficiency (mitochondrial complex I deficiency, nuclear, type 20)Autosomal recessive
3611103ACAD9611126Acyl-CoA dehydrogenase 9 deficiency (mitochondrial complex I deficiency, nuclear, type 20)Autosomal recessive
|

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  • CGT Bank v3.2.1
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  • CGT Bank v3.2.5
  • Historic Versions

chrom
OMIM (gene)
gene
previous symbol
OMIM (phen)
disease name (phenotype)
inheritance
X300371ABCD1300100AdrenoleukodystrophyX-linked
X300371ABCD1300100AdrenoleukodystrophyX-linked
X300629AP1S2304340Mental retardation, X-linked, syndromic, type 5 (Pettigrew syndrome)X-linked
X300629AP1S2304340Mental retardation, X-linked, syndromic, type 5 (Pettigrew syndrome)X-linked
X313700AR300068Androgen insensitivity syndrome, completeX-linked
X313700AR300068Androgen insensitivity syndrome, completeX-linked
X300180ARSLARSE302950Chondrodysplasia punctata, brachytelephalangicX-linked
X300180ARSLARSE302950Chondrodysplasia punctata, brachytelephalangicX-linked
X300382ARX308350; 300215; 309510Epileptic encephalopathy, early infantile, type 1; ARX-related developmental disordersX-linked
X300382ARX308350; 300215; 309510Epileptic encephalopathy, early infantile, type 1; ARX-related developmental disordersX-linked
X300011ATP7A309400; 304150Menkes disease; Occipital horn syndromeX-linked
X300011ATP7A309400; 304150Menkes disease; Occipital horn syndromeX-linked
X300504ATRX309580; 301040Mental retardation-hypotonic facies syndrome, X-linked; Alpha-thalassemia/mental retardation syndromeX-linked
X300504ATRX309580; 301040Mental retardation-hypotonic facies syndrome, X-linked; Alpha-thalassemia/mental retardation syndromeX-linked
X300553BRWD3300659Mental retardation, X-linked, type 93X-linked
X300553BRWD3300659Mental retardation, X-linked, type 93X-linked
X300300BTK300755Agammaglobulinemia X-linked, type 1X-linked
X300300BTK300755Agammaglobulinemia X-linked, type 1X-linked
X300386CD40LG308230Hyper-IgM syndrome, type 1 (immunodeficiency, X-linked, with hyper-IgM, type 1)X-linked
X300386CD40LG308230Hyper-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
12605378AAAS231550Triple-A syndrome (achalasia-addisonianism-alacrimia)Autosomal recessive
12605378AAAS231550Triple-A syndrome (achalasia-addisonianism-alacrimia)Autosomal recessive
2607800ABCA12601277; 242500Ichthyosis, congenital, autosomal recessive, type 4A; ICAR, type 4B (harlequin)Autosomal recessive
2607800ABCA12601277; 242500Ichthyosis, congenital, autosomal recessive, type 4A; ICAR, type 4B (harlequin)Autosomal recessive
1601691ABCA4248200; 604116Stargardt disease type 1; Cone-rod dystrophy type 3Autosomal recessive
1601691ABCA4248200; 604116Stargardt disease type 1; Cone-rod dystrophy type 3Autosomal recessive
2603201ABCB11605479; 601847Cholestasis, benign recurrent intrahepatic, type 2; Cholestasis, progressive familial intrahepatic, type 2Autosomal recessive
2603201ABCB11605479; 601847Cholestasis, benign recurrent intrahepatic, type 2; Cholestasis, progressive familial intrahepatic, type 2Autosomal recessive
11600509ABCC8256450*; 606176*Hyperinsulinemic hypoglycemia, type 1 (congenital hyperinsulinism); Permanent neonatal diabetes mellitus (PNDM)Autosomal recessive*
11600509ABCC8256450*; 606176*Hyperinsulinemic hypoglycemia, type 1 (congenital hyperinsulinism); Permanent neonatal diabetes mellitus (PNDM)Autosomal recessive*
X300371ABCD1300100AdrenoleukodystrophyX-linked
X300371ABCD1300100AdrenoleukodystrophyX-linked
14603214ABCD4614857Methylmalonic aciduria and homocystinuria, cblJ typeAutosomal recessive
14603214ABCD4614857Methylmalonic aciduria and homocystinuria, cblJ typeAutosomal recessive
11604773ACAD8611283Isobutyryl-CoA dehydrogenase deficiencyAutosomal recessive
11604773ACAD8611283Isobutyryl-CoA dehydrogenase deficiencyAutosomal recessive
3611103ACAD9611126Acyl-CoA dehydrogenase 9 deficiency (mitochondrial complex I deficiency, nuclear, type 20)Autosomal recessive
3611103ACAD9611126Acyl-CoA dehydrogenase 9 deficiency (mitochondrial complex I deficiency, nuclear, type 20)Autosomal recessive
1607008ACADM201450Medium-chain acyl-CoA dehydrogenase deficiencyAutosomal recessive
1607008ACADM201450Medium-chain acyl-CoA dehydrogenase deficiencyAutosomal recessive
|


chrom
OMIM (gene)
gene
previous
OMIM (phen)
disease name (phenotype)
inheritance
X300371ABCD1300100AdrenoleukodystrophyX-linked
X300371ABCD1300100AdrenoleukodystrophyX-linked
1607008ACADM201450Medium-chain acyl-CoA dehydrogenase deficiencyAutosomal recessive
1607008ACADM201450Medium-chain acyl-CoA dehydrogenase deficiencyAutosomal recessive
2604285AGXT259900Hyperoxaluria, primary, type 1Autosomal recessive
2604285AGXT259900Hyperoxaluria, primary, type 1Autosomal recessive
X300629AP1S2304340Mental retardation, X-linked, syndromic, type 5 (Pettigrew syndrome)X-linked
X300629AP1S2304340Mental retardation, X-linked, syndromic, type 5 (Pettigrew syndrome)X-linked
X313700AR300068Androgen insensitivity syndrome, completeX-linked
X313700AR300068Androgen insensitivity syndrome, completeX-linked
22607574ARSA250100Metachromatic leukodystrophyAutosomal recessive
22607574ARSA250100Metachromatic leukodystrophyAutosomal recessive
X300180ARSLARSE302950Chondrodysplasia punctata, brachytelephalangicX-linked
X300180ARSLARSE302950Chondrodysplasia punctata, brachytelephalangicX-linked
X300382ARX308350; 300215; 309510Epileptic encephalopathy, early infantile, type 1; ARX-related developmental disordersX-linked
X300382ARX308350; 300215; 309510Epileptic encephalopathy, early infantile, type 1; ARX-related developmental disordersX-linked
X300011ATP7A309400; 304150Menkes disease; Occipital horn syndromeX-linked
X300011ATP7A309400; 304150Menkes disease; Occipital horn syndromeX-linked
X300504ATRX309580; 301040Mental retardation-hypotonic facies syndrome, X-linked; Alpha-thalassemia/mental retardation syndromeX-linked
X300504ATRX309580; 301040Mental retardation-hypotonic facies syndrome, X-linked; Alpha-thalassemia/mental retardation syndromeX-linked
|


chrom
OMIM (gene)
gene
previous symbol
OMIM (phenotype)
disease name (phenotype)
inheritance
7602421CFTR219700Cystic fibrosisAutosomal recessive
7602421CFTR219700Cystic fibrosisAutosomal recessive
X300377DMD310200; 300376Duchenne/Becker muscular dystrophyX-linked
X300377DMD310200; 300376Duchenne/Becker muscular dystrophyX-linked
X309550FMR1300624Fragile X syndromeX-linked
X309550FMR1300624Fragile X syndromeX-linked
X305900G6PD300908Hemolytic anemia, G6PD deficient (favism)X-linked
X305900G6PD300908Hemolytic anemia, G6PD deficient (favism)X-linked
13121011GJB2220290Deafness, autosomal recessive, type 1A; Deafness, digenic, GJB2/GJB6Autosomal recessive; Digenic inheritance (GJB6 gene)
13121011GJB2220290Deafness, autosomal recessive, type 1A; Deafness, digenic, GJB2/GJB6Autosomal recessive; Digenic inheritance (GJB6 gene)
16141800HBA1604131Thalassemia, alpha-Autosomal recessive
16141800HBA1604131Thalassemia, alpha-Autosomal recessive
16141850HBA2604131Thalassemia, alpha-Autosomal recessive
16141850HBA2604131Thalassemia, alpha-Autosomal recessive
11141900HBB603903HBB-related hemoglobinopathyAutosomal recessive
11141900HBB603903HBB-related hemoglobinopathyAutosomal recessive
15606869HEXA272800Tay-Sachs diseaseAutosomal recessive
15606869HEXA272800Tay-Sachs diseaseAutosomal recessive
5600354SMN1253300Spinal muscular atrophyAutosomal recessive
5600354SMN1253300Spinal muscular atrophyAutosomal recessive


chrom
OMIM (gene)
gene
previous symbol
OMIM (phen)
disease name (phenotype)
inheritance
X300371ABCD1300100AdrenoleukodystrophyX-linked
X300371ABCD1300100AdrenoleukodystrophyX-linked
X300629AP1S2304340Mental retardation, X-linked, syndromic, type 5 (Pettigrew syndrome)X-linked
X300629AP1S2304340Mental retardation, X-linked, syndromic, type 5 (Pettigrew syndrome)X-linked
X313700AR300068Androgen insensitivity syndrome, completeX-linked
X313700AR300068Androgen insensitivity syndrome, completeX-linked
X300180ARSLARSE302950Chondrodysplasia punctata, brachytelephalangicX-linked
X300180ARSLARSE302950Chondrodysplasia punctata, brachytelephalangicX-linked
X300382ARX308350; 300215; 309510Epileptic encephalopathy, early infantile, type 1; ARX-related developmental disordersX-linked
X300382ARX308350; 300215; 309510Epileptic encephalopathy, early infantile, type 1; ARX-related developmental disordersX-linked
X300011ATP7A309400; 304150Menkes disease; Occipital horn syndromeX-linked
X300011ATP7A309400; 304150Menkes disease; Occipital horn syndromeX-linked
X300504ATRX309580; 301040Mental retardation-hypotonic facies syndrome, X-linked; Alpha-thalassemia/mental retardation syndromeX-linked
X300504ATRX309580; 301040Mental retardation-hypotonic facies syndrome, X-linked; Alpha-thalassemia/mental retardation syndromeX-linked
X300553BRWD3300659Mental retardation, X-linked, type 93X-linked
X300553BRWD3300659Mental retardation, X-linked, type 93X-linked
X300300BTK300755Agammaglobulinemia X-linked, type 1X-linked
X300300BTK300755Agammaglobulinemia X-linked, type 1X-linked
X300386CD40LG308230Hyper-IgM syndrome, type 1 (immunodeficiency, X-linked, with hyper-IgM, type 1)X-linked
X300386CD40LG308230Hyper-IgM syndrome, type 1 (immunodeficiency, X-linked, with hyper-IgM, type 1)X-linked
|

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  • CGT 600 v1.1
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Gene
Disease
Transcript
Mutations
Disease description
ABCA4Cone-rod dystrophy type 3NM_000350.2NM_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>TCone 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[...]
ABCA4Cone-rod dystrophy type 3NM_000350.2NM_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>TCone 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[...]
ABCA4Retinitis pigmentosa type 19NM_000350.2NM_000350.2:c.1848delARetinitis 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[...]
ABCA4Retinitis pigmentosa type 19NM_000350.2NM_000350.2:c.1848delARetinitis 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[...]
ABCA4Stargardt disease type 1NM_000350.2NM_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.[...]
ABCA4Stargardt disease type 1NM_000350.2NM_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.[...]
ABCB7Sideroblastic anemia and ataxia, X-linkedNM_004299.4NM_004299.4:c.1203T>G, NM_004299.4:c.1234G>C, NM_004299.4:c.1300G>AX-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[...]
ABCB7Sideroblastic anemia and ataxia, X-linkedNM_004299.4NM_004299.4:c.1203T>G, NM_004299.4:c.1234G>C, NM_004299.4:c.1300G>AX-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[...]
ACAD9Acyl-CoA dehydrogenase type 9 deficiencyNM_014049.4NM_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[...]
ACAD9Acyl-CoA dehydrogenase type 9 deficiencyNM_014049.4NM_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[...]
ACADMAcyl-CoA dehydrogenase deficiency, medium-chainNM_000016.5NM_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 [...]
ACADMAcyl-CoA dehydrogenase deficiency, medium-chainNM_000016.5NM_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 [...]
ACADSAcyl-CoA dehydrogenase deficiency, short-chainNM_000017.2NM_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[...]
ACADSAcyl-CoA dehydrogenase deficiency, short-chainNM_000017.2NM_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[...]
ACADSB2-Methylbutyryl-CoA dehydrogenase deficiencyNM_001609.3NM_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>A2-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[...]
ACADSB2-Methylbutyryl-CoA dehydrogenase deficiencyNM_001609.3NM_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>A2-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[...]
ACADVLVery long chain acyl-CoA dehydrogenase deficiencyNM_000018.3NM_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[...]
ACADVLVery long chain acyl-CoA dehydrogenase deficiencyNM_000018.3NM_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[...]
ACAT1Beta-ketothiolase deficiencyNM_000019.3NM_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[...]
ACAT1Beta-ketothiolase deficiencyNM_000019.3NM_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[...]
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Gene
Disease
Transcript
Mutations
Disease description
ABCA4Stargardt disease type 1; Cone-rod dystrophy type 3NM_000350.2NM_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.[...]
ABCA4Stargardt disease type 1; Cone-rod dystrophy type 3NM_000350.2NM_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.[...]
ABCB7X-linked sideroblastic anemia and ataxia (XLSA/A)NM_004299.4NM_004299.4:c.1300G>A, NM_004299.4:c.1234G>C, NM_004299.4:c.1203T>GXLSA/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[...]
ABCB7X-linked sideroblastic anemia and ataxia (XLSA/A)NM_004299.4NM_004299.4:c.1300G>A, NM_004299.4:c.1234G>C, NM_004299.4:c.1203T>GXLSA/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[...]
ACAD9Mitochondrial complex I deficiency due to ACAD9NM_014049.4NM_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[...]
ACAD9Mitochondrial complex I deficiency due to ACAD9NM_014049.4NM_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[...]
ACADMMedium-chain acyl-CoA dehydrogenase deficiencyNM_001286043.1NM_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. [...]
ACADMMedium-chain acyl-CoA dehydrogenase deficiencyNM_001286043.1NM_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. [...]
ACADSShort-chain acyl-CoA dehydrogenase deficiencyNM_000017.3NM_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>TShort-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[...]
ACADSShort-chain acyl-CoA dehydrogenase deficiencyNM_000017.3NM_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>TShort-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[...]
ACADSBShort/branched-chain acyl-CoA dehydrogenase deficiencyNM_001609.3NM_001609.3:c.303+1G>A, NM_001609.3:c.443C>T, NM_001609.3:c.621G>A, NM_001609.3:c.763C>TShort/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[...]
ACADSBShort/branched-chain acyl-CoA dehydrogenase deficiencyNM_001609.3NM_001609.3:c.303+1G>A, NM_001609.3:c.443C>T, NM_001609.3:c.621G>A, NM_001609.3:c.763C>TShort/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[...]
ACADVLVery long-chain acyl-CoA dehydrogenase deficiencyNM_001270447.1NM_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[...]
ACADVLVery long-chain acyl-CoA dehydrogenase deficiencyNM_001270447.1NM_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[...]
ACAT1Alpha-methylacetoacetic aciduriaNM_000019.3NM_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[...]
ACAT1Alpha-methylacetoacetic aciduriaNM_000019.3NM_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[...]
ACERenal tubular dysgenesisNM_000789.3NM_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>TRenal 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[...]
ACERenal tubular dysgenesisNM_000789.3NM_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>TRenal 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[...]
ACOX1Peroxisomal acyl-CoA oxidase deficiencyNM_004035.6NM_004035.6:c.832A>G, NM_004035.6:c.591delG, NM_004035.6:c.532G>TPeroxisomal 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[...]
ACOX1Peroxisomal acyl-CoA oxidase deficiencyNM_004035.6NM_004035.6:c.832A>G, NM_004035.6:c.591delG, NM_004035.6:c.532G>TPeroxisomal 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[...]
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  • CGT 250 v1
  • CGT 250 v2

Gene
Disease
Transcript
Mutations
Disease description
ABCA4Cone-rod dystrophy type 3NM_000350.2NM_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>TCone 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[...]
ABCA4Cone-rod dystrophy type 3NM_000350.2NM_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>TCone 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[...]
ABCA4Retinitis pigmentosa type 19NM_000350.2NM_000350.2:c.1848delARetinitis 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[...]
ABCA4Retinitis pigmentosa type 19NM_000350.2NM_000350.2:c.1848delARetinitis 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[...]
ABCA4Stargardt disease type 1NM_000350.2NM_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.[...]
ABCA4Stargardt disease type 1NM_000350.2NM_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.[...]
ACAD9Acyl-CoA dehydrogenase type 9 deficiencyNM_014049.4NM_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[...]
ACAD9Acyl-CoA dehydrogenase type 9 deficiencyNM_014049.4NM_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[...]
ACADMAcyl-CoA dehydrogenase deficiency, medium-chainNM_000016.5NM_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 [...]
ACADMAcyl-CoA dehydrogenase deficiency, medium-chainNM_000016.5NM_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 [...]
ACADSAcyl-CoA dehydrogenase deficiency, short-chainNM_000017.2NM_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[...]
ACADSAcyl-CoA dehydrogenase deficiency, short-chainNM_000017.2NM_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[...]
ACADSB2-Methylbutyryl-CoA dehydrogenase deficiencyNM_001609.3NM_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>A2-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[...]
ACADSB2-Methylbutyryl-CoA dehydrogenase deficiencyNM_001609.3NM_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>A2-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[...]
ACADVLVery long chain acyl-CoA dehydrogenase deficiencyNM_000018.3NM_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[...]
ACADVLVery long chain acyl-CoA dehydrogenase deficiencyNM_000018.3NM_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[...]
ACERenal tubular dysgenesisNM_000789.3NM_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>GRenal 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[...]
ACERenal tubular dysgenesisNM_000789.3NM_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>GRenal 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[...]
ADAAdenosine deaminase deficiencyNM_000022.2NM_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>TAdenosine 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[...]
ADAAdenosine deaminase deficiencyNM_000022.2NM_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>TAdenosine 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[...]
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Gene
Disease
Transcript
Mutations
Disease description
ABCA4Stargardt disease type 1; Cone-rod dystrophy type 3NM_000350.2NM_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.[...]
ABCA4Stargardt disease type 1; Cone-rod dystrophy type 3NM_000350.2NM_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.[...]
ACAD9Mitochondrial complex I deficiency due to ACAD9NM_014049.4NM_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[...]
ACAD9Mitochondrial complex I deficiency due to ACAD9NM_014049.4NM_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[...]
ACADMMedium-chain acyl-CoA dehydrogenase deficiencyNM_001286043.1NM_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. [...]
ACADMMedium-chain acyl-CoA dehydrogenase deficiencyNM_001286043.1NM_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. [...]
ACADSShort-chain acyl-CoA dehydrogenase deficiencyNM_000017.3NM_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>TShort-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[...]
ACADSShort-chain acyl-CoA dehydrogenase deficiencyNM_000017.3NM_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>TShort-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[...]
ACADSBShort/branched-chain acyl-CoA dehydrogenase deficiencyNM_001609.3NM_001609.3:c.303+1G>A, NM_001609.3:c.443C>T, NM_001609.3:c.621G>A, NM_001609.3:c.763C>TShort/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[...]
ACADSBShort/branched-chain acyl-CoA dehydrogenase deficiencyNM_001609.3NM_001609.3:c.303+1G>A, NM_001609.3:c.443C>T, NM_001609.3:c.621G>A, NM_001609.3:c.763C>TShort/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[...]
ACADVLVery long-chain acyl-CoA dehydrogenase deficiencyNM_001270447.1NM_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[...]
ACADVLVery long-chain acyl-CoA dehydrogenase deficiencyNM_001270447.1NM_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[...]
ACERenal tubular dysgenesisNM_000789.3NM_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>TRenal 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[...]
ACERenal tubular dysgenesisNM_000789.3NM_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>TRenal 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[...]
ADAAdenosine deaminase deficiency / Severe combined immunodeficiency due to ADA deficiencyNM_000022.3NM_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>CAdenosine 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[...]
ADAAdenosine deaminase deficiency / Severe combined immunodeficiency due to ADA deficiencyNM_000022.3NM_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>CAdenosine 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[...]
ADGRV1Usher syndrome, type 2CNM_032119.3NM_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[...]
ADGRV1Usher syndrome, type 2CNM_032119.3NM_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[...]
AGLGlycogen storage disease type 3NM_000028.2NM_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 [...]
AGLGlycogen storage disease type 3NM_000028.2NM_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 [...]
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Gene
Disease
CFTRCystic fibrosis
CFTRCystic fibrosis
FMR1Fragile X syndrome
FMR1Fragile X syndrome
G6PDHemolytic anemia, G6PD deficient (favism)
G6PDHemolytic anemia, G6PD deficient (favism)
GJB2Deafness, autosomal recessive, type 1A
GJB2Deafness, autosomal recessive, type 1A
HBA1Thalassemia, alpha-
HBA1Thalassemia, alpha-
HBA2Thalassemia, alpha-
HBA2Thalassemia, alpha-
HBBHBB-related hemoglobinopathy
HBBHBB-related hemoglobinopathy
SMN1Spinal muscular atrophy
SMN1Spinal muscular atrophy

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chrom
OMIM (gene)
Gene
Previous symbol
OMIM (phen)
DISEASE
MOI
1607008ACADM201450Medium-chain acyl-CoA dehydrogenase deficiencyAutosomal recessive
1607008ACADM201450Medium-chain acyl-CoA dehydrogenase deficiencyAutosomal recessive
2604285AGXT259900Hyperoxaluria, primary, type 1Autosomal recessive
2604285AGXT259900Hyperoxaluria, primary, type 1Autosomal recessive
22607574ARSA250100Metachromatic leukodystrophyAutosomal recessive
22607574ARSA250100Metachromatic leukodystrophyAutosomal recessive
3609019BTD253260Biotinidase deficiencyAutosomal recessive
3609019BTD253260Biotinidase deficiencyAutosomal recessive
21613381CBS236200Homocystinuria due to cystathionine beta-synthaseAutosomal recessive
21613381CBS236200Homocystinuria due to cystathionine beta-synthaseAutosomal recessive
7602421CFTR219700Cystic fibrosisAutosomal recessive
7602421CFTR219700Cystic fibrosisAutosomal recessive
11602858DHCR7270400Smith-Lemli-Opitz syndromeAutosomal recessive
11602858DHCR7270400Smith-Lemli-Opitz syndromeAutosomal recessive
X300384EMD310300Emery-Dreifuss muscular dystrophy, type 1, X-linkedX-linked
X300384EMD310300Emery-Dreifuss muscular dystrophy, type 1, X-linkedX-linked
X309550FMR1300624Fragile X syndromeX-linked
X309550FMR1300624Fragile X syndromeX-linked
X305900G6PD300908Hemolytic anemia, G6PD deficient (favism) X-linked
X305900G6PD300908Hemolytic anemia, G6PD deficient (favism) X-linked
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