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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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      • CGT Plus v3.3.5
      • 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
      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
      • CGT Bank v3.3.11
      • Historic Versions

      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
      |


      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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      Download CGTBankv3.3.1.1

      • 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[...]
      |

      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[...]
      |
      • 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[...]
      |

      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 [...]
      |
      • Current version
      • Historic versions

      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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      • CGT Essential
      • Historic versions

      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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      If you need additional information, you can contact us at the following email address: cgtspain@igenomix.com

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