Genomics England
GMS Panels
Panels
Genes and Entities

GABRD

gamma-aminobutyric acid type A receptor delta subunit
OMIM: 137163
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.48
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
GABRD-related neurodevelopmental disorder with epilepsy
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 7.54
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
{Epilepsy, idiopathic generalized, 10}, OMIM:613060, {Epilepsy, juvenile myoclonic, susceptibility to}, OMIM:613060, {Generalized epilepsy with febrile seizures plus, type 5, susceptibility to}, OMIM:613060
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.134
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
{Epilepsy, idiopathic generalized, 10}, OMIM:613060, {Epilepsy, juvenile myoclonic, susceptibility to}, OMIM:613060