1. Genes and Genomic Entities
  2. GABRA3

GABRA3

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

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber GABRA3 in Early onset or syndromic epilepsy


Level 2: Neurology
Version 8.173
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 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features, OMIM:301091
    Tags
    • Q1_26_promote_green
    Amber GABRA3 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.370
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  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 Amber
    • Literature
    Phenotypes
    • Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features, OMIM:301091
    Tags
    • Q1_26_promote_green