GABRB1

gamma-aminobutyric acid type A receptor beta1 subunit
OMIM: 137190, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green GABRB1 in Early onset or syndromic epilepsy

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.193
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 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • Epileptic encephalopathy, early infantile, 45, OMIM:617153
    • developmental and epileptic encephalopathy, 45, MONDO:0014942