1. Genes and Genomic Entities
  2. GOT2

GOT2

glutamic-oxaloacetic transaminase 2
OMIM: 138150, Gene2Phenotype

3 panels

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


Version 3.90
Latest signed off version: v3.1 (22 Mar 2023)

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 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.196
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • 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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.557
    Latest signed off version: v5.0 (22 Mar 2023)

    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