Genomics England
GMS Panels
Panels
Genes and Entities

GABRG2

gamma-aminobutyric acid type A receptor gamma2 subunit
OMIM: 137164
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 3 611277, GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3 611277
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, 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
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
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
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 5.6
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