Neurotransmitter Defects
Gene: GABRG2

GABRG2 (gamma-aminobutyric acid type A receptor gamma2 subunit)
EnsemblGeneIds (GRCh38): ENSG00000113327
EnsemblGeneIds (GRCh37): ENSG00000113327
OMIM: 137164, Gene2Phenotype
GABRG2 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

GABA receptor. Multiple unrelated families reported, variable severity.
Created: 23 Aug 2020, 7:35 a.m. | Last Modified: 23 Aug 2020, 7:35 a.m.

Panel Version: 0.38

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epileptic encephalopathy, early infantile, 74 618396; Epilepsy, generalized, with febrile seizures plus, type 3 607681

Publications

Created: 23 Aug 2020, 7:35 a.m.
Last Modified: 23 Aug 2020, 7:35 a.m.
Panel version: 0.38

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Epileptic encephalopathy, early infantile, 74 618396
Epilepsy, generalized, with febrile seizures plus, type 3 607681

OMIM

137164

Clinvar variants

Variants in GABRG2

Penetrance

None

Publications

Panels with this gene