Genomics England
GMS Panels
Panels
Genes and Entities

GABRB1

gamma-aminobutyric acid type A receptor beta1 subunit
OMIM: 137190
PanelMode of inheritanceDetails
1 panel
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.10
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epileptic encephalopathy, early infantile, 45, OMIM:617153, developmental and epileptic encephalopathy, 45, MONDO:0014942