GOT2

glutamic-oxaloacetic transaminase 2
OMIM: 138150, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green GOT2 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Malate-Aspartate Shuttle-Related Encephalopathy
    Green GOT2 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.125
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Epileptic encephalopathy, early infantile, 82, OMIM:618721
    • Developmental and epileptic encephalopathy, 82, MONDO:0032880
    Tags
    • treatable
    Amber GOT2 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Epileptic encephalopathy, early infantile, 82, OMIM:618721
    • Developmental and epileptic encephalopathy, 82, MONDO:0032880
    Tags
    • treatable