Genomics England
GMS Panels
Panels
Genes and Entities

GABRA1

gamma-aminobutyric acid type A receptor alpha1 subunit
OMIM: 137160
PanelMode of inheritanceDetails
2 panels
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
{Epilepsy, childhood absence, susceptibility to, 4} 611136, {Epilepsy, juvenile myoclonic, susceptibility to, 5} 611136
Green
in Intellectual disability - microarray and sequencing
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
JUVENILE MYOCLONIC EPILEPSY