PanelApp (test)
  1. Genes and Genomic Entities
  2. GOT2

GOT2

glutamic-oxaloacetic transaminase 2
OMIM: 138150, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green GOT2 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Epileptic encephalopathy, early infantile, 82, MIM# 618721

Green GOT2 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Epileptic encephalopathy, early infantile, 82, MIM# 618721

    Green GOT2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Epileptic encephalopathy, early infantile, 82, MIM# 618721

    Green GOT2 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BeginNGS
    Phenotypes
    • Developmental and epileptic encephalopathy 82, MIM# 618721
    Tags
    • treatable
    • neurological