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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 v3.3.4
  • Historic Versions

id
gene
OMIM (gene)
Disease name (phenotype)
Inheritance
1AAAS605378Triple-A syndrome (achalasia-addisonianism-alacrimia)Autosomal recessive
1AAAS605378Triple-A syndrome (achalasia-addisonianism-alacrimia)Autosomal recessive
2AARS1601065Epileptic encephalopathy, early infantile, type 29Autosomal recessive
2AARS1601065Epileptic encephalopathy, early infantile, type 29Autosomal recessive
3AARS2612035Combined oxidative phosphorylation deficiency 8; Leukoencephalopathy, progressive, with ovarian failureAutosomal recessive
3AARS2612035Combined oxidative phosphorylation deficiency 8; Leukoencephalopathy, progressive, with ovarian failureAutosomal recessive
4AASS605113Hyperlysinemia, type 1 and type 2Autosomal recessive
4AASS605113Hyperlysinemia, type 1 and type 2Autosomal recessive
5ABAT137150GABA-transaminase deficiencyAutosomal recessive
5ABAT137150GABA-transaminase deficiencyAutosomal recessive
6ABCA1600046Tangier diseaseAutosomal recessive
6ABCA1600046Tangier diseaseAutosomal recessive
7ABCA12607800Ichthyosis, congenital, autosomal recessive, type 4A; ICAR, type 4B (harlequin)Autosomal recessive
7ABCA12607800Ichthyosis, congenital, autosomal recessive, type 4A; ICAR, type 4B (harlequin)Autosomal recessive
8ABCA3601615Surfactant metabolism dysfunction, pulmonary, type 3Autosomal recessive
8ABCA3601615Surfactant metabolism dysfunction, pulmonary, type 3Autosomal recessive
9ABCA4601691Stargardt disease type 1; Cone-rod dystrophy type 3Autosomal recessive
9ABCA4601691Stargardt disease type 1; Cone-rod dystrophy type 3Autosomal recessive
10ABCB11603201Cholestasis, benign recurrent intrahepatic, type 2; Cholestasis, progressive familial intrahepatic, type 2Autosomal recessive
10ABCB11603201Cholestasis, benign recurrent intrahepatic, type 2; Cholestasis, progressive familial intrahepatic, type 2Autosomal recessive
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id
gene
OMIM (gene)
Disease name (phenotype)
Inheritance
1AAAS605378Triple-A syndrome (achalasia-addisonianism-alacrimia)Autosomal recessive
1AAAS605378Triple-A syndrome (achalasia-addisonianism-alacrimia)Autosomal recessive
2ABCA12607800Ichthyosis, congenital, autosomal recessive, type 4A; ICAR, type 4B (harlequin)Autosomal recessive
2ABCA12607800Ichthyosis, congenital, autosomal recessive, type 4A; ICAR, type 4B (harlequin)Autosomal recessive
3ABCA3601615Surfactant metabolism dysfunction, pulmonary, type 3Autosomal recessive
3ABCA3601615Surfactant metabolism dysfunction, pulmonary, type 3Autosomal recessive
4ABCA4601691Stargardt disease type 1; Cone-rod dystrophy type 3Autosomal recessive
4ABCA4601691Stargardt disease type 1; Cone-rod dystrophy type 3Autosomal recessive
5ABCB11603201Cholestasis, benign recurrent intrahepatic, type 2; Cholestasis, progressive familial intrahepatic, type 2Autosomal recessive
5ABCB11603201Cholestasis, benign recurrent intrahepatic, type 2; Cholestasis, progressive familial intrahepatic, type 2Autosomal recessive
6ABCC8600509Hyperinsulinemic hypoglycemia, type 1 (congenital hyperinsulinism); Permanent neonatal diabetes mellitus (PNDM)Autosomal recessive
6ABCC8600509Hyperinsulinemic hypoglycemia, type 1 (congenital hyperinsulinism); Permanent neonatal diabetes mellitus (PNDM)Autosomal recessive
7ABCD1300371AdrenoleukodystrophyX-linked
7ABCD1300371AdrenoleukodystrophyX-linked
8ABCD4603214Methylmalonic aciduria and homocystinuria, cblJ typeAutosomal recessive
8ABCD4603214Methylmalonic aciduria and homocystinuria, cblJ typeAutosomal recessive
9ACAD8604773Isobutyryl-CoA dehydrogenase deficiencyAutosomal recessive
9ACAD8604773Isobutyryl-CoA dehydrogenase deficiencyAutosomal recessive
10ACAD9611103Acyl-CoA dehydrogenase 9 deficiency (mitochondrial complex I deficiency, nuclear, type 20)Autosomal recessive
10ACAD9611103Acyl-CoA dehydrogenase 9 deficiency (mitochondrial complex I deficiency, nuclear, type 20)Autosomal recessive
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  • CGT Bank v3.3.10
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id
gene
OMIM (gene)
Disease name (phenotype)
Inheritance
1ABCD1300371AdrenoleukodystrophyX-linked
1ABCD1300371AdrenoleukodystrophyX-linked
2AFF2300806Mental retardation, X-linked, FRAXE typeX-linked
2AFF2300806Mental retardation, X-linked, FRAXE typeX-linked
3AP1S2300629Mental retardation, X-linked, syndromic, type 5 (Pettigrew syndrome)X-linked
3AP1S2300629Mental retardation, X-linked, syndromic, type 5 (Pettigrew syndrome)X-linked
4AR313700Androgen insensitivity syndrome, completeX-linked
4AR313700Androgen insensitivity syndrome, completeX-linked
5ARSL300180Chondrodysplasia punctata, brachytelephalangicX-linked
5ARSL300180Chondrodysplasia punctata, brachytelephalangicX-linked
6ARX300382Epileptic encephalopathy, early infantile, type 1; ARX-related developmental disordersX-linked
6ARX300382Epileptic encephalopathy, early infantile, type 1; ARX-related developmental disordersX-linked
7ATP7A300011Menkes disease; Occipital horn syndromeX-linked
7ATP7A300011Menkes disease; Occipital horn syndromeX-linked
8ATRX300504Mental retardation-hypotonic facies syndrome, X-linked; Alpha-thalassemia/mental retardation syndromeX-linked
8ATRX300504Mental retardation-hypotonic facies syndrome, X-linked; Alpha-thalassemia/mental retardation syndromeX-linked
9BRWD3300553Mental retardation, X-linked, type 93X-linked
9BRWD3300553Mental retardation, X-linked, type 93X-linked
10BTK300300Agammaglobulinemia X-linked, type 1X-linked
10BTK300300Agammaglobulinemia X-linked, type 1X-linked
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id
gene
OMIM (gene)
Disease name (phenotype)
Inheritance
1ABCD1300371AdrenoleukodystrophyX-linked
1ABCD1300371AdrenoleukodystrophyX-linked
2AP1S2300629Mental retardation, X-linked, syndromic, type 5 (Pettigrew syndrome)X-linked
2AP1S2300629Mental retardation, X-linked, syndromic, type 5 (Pettigrew syndrome)X-linked
3AR313700Androgen insensitivity syndrome, completeX-linked
3AR313700Androgen insensitivity syndrome, completeX-linked
4ARSL300180Chondrodysplasia punctata, brachytelephalangicX-linked
4ARSL300180Chondrodysplasia punctata, brachytelephalangicX-linked
5ARX300382Epileptic encephalopathy, early infantile, type 1; ARX-related developmental disordersX-linked
5ARX300382Epileptic encephalopathy, early infantile, type 1; ARX-related developmental disordersX-linked
6ATP7A300011Menkes disease; Occipital horn syndromeX-linked
6ATP7A300011Menkes disease; Occipital horn syndromeX-linked
7ATRX300504Mental retardation-hypotonic facies syndrome, X-linked; Alpha-thalassemia/mental retardation syndromeX-linked
7ATRX300504Mental retardation-hypotonic facies syndrome, X-linked; Alpha-thalassemia/mental retardation syndromeX-linked
8BRWD3300553Mental retardation, X-linked, type 93X-linked
8BRWD3300553Mental retardation, X-linked, type 93X-linked
9BTK300300Agammaglobulinemia X-linked, type 1X-linked
9BTK300300Agammaglobulinemia X-linked, type 1X-linked
10CD40LG300386Hyper-IgM syndrome, type 1 (immunodeficiency, X-linked, with hyper-IgM, type 1)X-linked
10CD40LG300386Hyper-IgM syndrome, type 1 (immunodeficiency, X-linked, with hyper-IgM, type 1)X-linked
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  • CGT 600 v1.1
  • CGT 600 v1.2

Gene
Disease
Transcript
Mutations
Disease description
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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id
gene
OMIM (gene)
Disease name (phenotype)
Inheritance
1CFTR602421Cystic fibrosisAutosomal recessive
1CFTR602421Cystic fibrosisAutosomal recessive
2FMR1309550Fragile X syndromeX-linked
2FMR1309550Fragile X syndromeX-linked
3G6PD305900Hemolytic anemia, G6PD deficient (favism)X-linked
3G6PD305900Hemolytic anemia, G6PD deficient (favism)X-linked
4GJB2121011Deafness, autosomal recessive, type 1AAutosomal recessive
4GJB2121011Deafness, autosomal recessive, type 1AAutosomal recessive
5HBA1141800Thalassemia, alpha-Autosomal recessive
5HBA1141800Thalassemia, alpha-Autosomal recessive
6HBA2141850Thalassemia, alpha-Autosomal recessive
6HBA2141850Thalassemia, alpha-Autosomal recessive
7HBB141900HBB-related hemoglobinopathyAutosomal recessive
7HBB141900HBB-related hemoglobinopathyAutosomal recessive
8SMN1600354Spinal muscular atrophyAutosomal recessive
8SMN1600354Spinal muscular atrophyAutosomal recessive

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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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