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Genetic epilepsy syndromes

Gene: GABRB1

Amber List (moderate evidence)

GABRB1 (gamma-aminobutyric acid type A receptor beta1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000163288
EnsemblGeneIds (GRCh37): ENSG00000163288
OMIM: 137190, Gene2Phenotype
GABRB1 is in 1 panel

2 reviews

Rebecca Foulger (Genomics England curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Amber.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

AD Early infantile epileptic encepalopathy. 2 cases on OMIM of young boys with EIEE with de novo missense GABRB1 variant. 2 other cases on HGMD pro - autism spectrum disorder and infantile spasms.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epileptic encephalopathy, early infantile, 45, 617153

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Epileptic encephalopathy, early infantile, 45, 617153
OMIM
137190
Clinvar variants
Variants in GABRB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: GABRB1 was added gene: GABRB1 was added to Genetic epilepsy syndromes. Sources: Wessex and West Midlands GLH,NHS GMS,Expert Review Amber Mode of inheritance for gene: GABRB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GABRB1 were set to 26950270; 27273810 Phenotypes for gene: GABRB1 were set to Epileptic encephalopathy, early infantile, 45, 617153