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  3. GABRB1
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Early onset or syndromic epilepsy

Gene: GABRB1

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

5 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 11 Oct 2023, 11:59 a.m. | Last Modified: 11 Oct 2023, 11:59 a.m.
Panel Version: 4.110

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 11 Oct 2023, 11:59 a.m.
Last Modified: 11 Oct 2023, 11:59 a.m.
Panel version: 4.110

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least three variants have been reported in unrelated cases with epilepsy (PMID: 26950270, 27273810, 31618474).
Created: 16 Feb 2023, 11:33 a.m. | Last Modified: 16 Feb 2023, 11:33 a.m.
Panel Version: 3.50
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 16 Feb 2023, 11:28 a.m. | Last Modified: 16 Feb 2023, 11:28 a.m.
Panel Version: 3.50
Created: 16 Feb 2023, 11:28 a.m.
Last Modified: 16 Feb 2023, 11:28 a.m.
Panel version: 3.50

Zornitza Stark (Australian Genomics)

Three individuals reported, two as part of large epilepsy cohorts.
Created: 22 Jan 2020, 10:45 a.m. | Last Modified: 22 Jan 2020, 10:45 a.m.
Panel Version: 2.0

Phenotypes
Epileptic encephalopathy, early infantile, 45, MIM# 617153

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 22 Jan 2020, 10:45 a.m.
Last Modified: 22 Jan 2020, 10:45 a.m.
Panel version: 2.0

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
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

Created: 6 Aug 2019, 8:31 p.m.
Last Modified: 6 Aug 2019, 8:31 p.m.
Panel version: 1.188

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Epileptic encephalopathy, early infantile, 45, OMIM:617153
  • developmental and epileptic encephalopathy, 45, MONDO:0014942
OMIM
137190
Clinvar variants
Variants in GABRB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Oct 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q1_23_promote_green was removed from gene: GABRB1.

11 Oct 2023, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to GABRB1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

16 Feb 2023, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q1_23_promote_green tag was added to gene: GABRB1.

16 Feb 2023, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: gabrb1 has been classified as Amber List (Moderate Evidence).

16 Feb 2023, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: GABRB1 were changed from Epileptic encephalopathy, early infantile, 45, 617153 to Epileptic encephalopathy, early infantile, 45, OMIM:617153; developmental and epileptic encephalopathy, 45, MONDO:0014942

16 Feb 2023, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: GABRB1 were set to 26950270; 27273810

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