Genomics England
GMS Panels
Panels
Genes and Entities

GABRG2

gamma-aminobutyric acid type A receptor gamma2 subunit
OMIM: 137164
PanelMode of inheritanceDetails
3 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, imprinted status unknown
Phenotypes
Epilepsy, generalized, with febrile seizures plus, type 3 611277, Febrile seizures, familial, 8 611277, {Epilepsy, childhood absence, susceptibility to, 2} 607681
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, imprinted status unknown
Phenotypes
Epilepsy, generalized, with febrile seizures plus, type 3 611277, Febrile seizures, familial, 8 611277, {Epilepsy, childhood absence, susceptibility to, 2} 607681
Green
in Likely inborn error of metabolism - targeted testing not possible
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Febrile seizures, familial, 8 611277, Epilepsy, generalized, with febrile seizures plus, type 3 611277, {Epilepsy, childhood absence, susceptibility to, 2} 607681