Research panel - Severe Paediatric Disorders
Gene: GABRA1

GABRA1 (gamma-aminobutyric acid type A receptor alpha1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000022355
EnsemblGeneIds (GRCh37): ENSG00000022355
OMIM: 137160, Gene2Phenotype
GABRA1 is in 4 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: GABRA1; Recommended initial gene rating: Green List (high evidence); Phenotypes: {Epilepsy, childhood absence, susceptibility to, 4}, 611136 (3) | {Epilepsy, juvenile myoclonic, susceptibility to, 5}, 611136 (3) | Epileptic encephalopathy, early infantile, 19, 615744 (3); Mode of inheritance: ND | ND | Autosomal dominant
Created: 20 Feb 2020, 5:19 p.m. | Last Modified: 20 Feb 2020, 5:19 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:19 p.m.
Last Modified: 20 Feb 2020, 5:19 p.m.
Panel version: 0.12

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

{Epilepsy, childhood absence, susceptibility to, 4}, 611136
Epileptic encephalopathy, early infantile, 19, 615744
{Epilepsy, juvenile myoclonic, susceptibility to, 5}, 611136

OMIM

137160

Clinvar variants

Variants in GABRA1

Penetrance

None

Publications

30847515

Panels with this gene