Early onset or syndromic epilepsy
Gene: GABRB1
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
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
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
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
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
Tag Q1_23_promote_green was removed from gene: GABRB1.
Source Expert Review Green was added to GABRB1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q1_23_promote_green tag was added to gene: GABRB1.
Gene: gabrb1 has been classified as Amber List (Moderate Evidence).
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
Publications for gene: GABRB1 were set to 26950270; 27273810
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