Neurotransmitter Defects
Gene: GABRB3

GABRB3 (gamma-aminobutyric acid type A receptor beta3 subunit)
EnsemblGeneIds (GRCh38): ENSG00000166206
EnsemblGeneIds (GRCh37): ENSG00000166206
OMIM: 137192, Gene2Phenotype
GABRB3 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

GABA receptor. Multiple unrelated families reported. Onset of multiple seizures types within the first year of life, and variable intellectual disability.
Created: 23 Aug 2020, 7:25 a.m. | Last Modified: 23 Aug 2020, 7:27 a.m.

Panel Version: 0.38

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epileptic encephalopathy, early infantile, 43, MIM# 617113

Publications

Created: 23 Aug 2020, 7:25 a.m.
Last Modified: 23 Aug 2020, 7:27 a.m.
Panel version: 0.35

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Epileptic encephalopathy, early infantile, 43, MIM# 617113

OMIM

137192

Clinvar variants

Variants in GABRB3

Penetrance

None

Publications

Panels with this gene