GABRA3

gamma-aminobutyric acid type A receptor alpha3 subunit
OMIM: 305660, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green GABRA3 in Mendeliome


Version 1.1902

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features, MIM# 301091

Green GABRA3 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features, MIM# 301091

    Green GABRA3 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features, MIM# 301091