Intellectual disability update Jan 2018
Gene: GABRG2

GABRG2 (gamma-aminobutyric acid type A receptor gamma2 subunit)
EnsemblGeneIds (GRCh38): ENSG00000113327
EnsemblGeneIds (GRCh37): ENSG00000113327
OMIM: 137164, Gene2Phenotype
GABRG2 is in 8 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a probable G2P for Epilepsy, generalized, with febrile seizures plus, type 3 611277. Two variants associated with more severe phenotypes including intellectual disability in at least six unrelated cases (PMID 25124326 & 28460589)
Created: 6 Feb 2018, 11:35 a.m.

Comment on phenotypes: Epilepsy, generalized, with febrile seizures plus, type 3 611277;Febrile seizures, familial, 8 611277;{Epilepsy, childhood absence, susceptibility to, 2} 607681
Created: 6 Feb 2018, 11:15 a.m.

Created: 6 Feb 2018, 11:15 a.m.

Panel version: 0.23

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
BRIDGE study SPEED NEURO Tier1 Gene

Phenotypes

Epilepsy, generalized, with febrile seizures plus, type 3 611277
Febrile seizures, familial, 8 611277
{Epilepsy, childhood absence, susceptibility to, 2} 607681

OMIM

137164

Clinvar variants

Variants in GABRG2

Penetrance

None

Publications

Panels with this gene