Early onset or syndromic epilepsy
Gene: GABRB3
Review and rating 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: Green.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Missense variants reported in association with epileptic encephalopathy. AD Early infantile epileptic encephalopathy & childhood absence epilepsy. Many cases reported - OMIM and HGMD Pro.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, 43,617113; {Epilepsy, childhood absence, susceptibility to, 5},612269
Publications
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epilepsy, childhood absence, susceptibility to, 5
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epilepsy, childhood absence, susceptibility to, 5
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epilepsy, childhood absence, susceptibility to, 5
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epilepsy, childhood absence, susceptibility to, 5
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: Confirmed DD gene, and all reviewers agree this should be green.Created: 5 Jan 2016, 11:58 a.m.
Comment on phenotypes: Sources: G2P, OMIM, reviewers.Created: 5 Jan 2016, 11:58 a.m.
Comment on mode of inheritance: Checked the imprinted gene list. Monoallelic confirmed on G2P.Created: 5 Jan 2016, 11:56 a.m.
Source Wessex and West Midlands GLH was added to GABRB3.
Source NHS GMS was added to GABRB3.
Ellen McDonagh: Comment on mode of inheritance
NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to GABRB3. Panel: Genetic Epilepsy Syndromes
Victorian Clinical Genetics Services was added to GABRB3. Panel: Genetic Epilepsy Syndromes
GABRB3 was added to Genetic Epilepsy Syndromes panel. Sources: UKGTN,Expert Review Green,Expert
GABRB3 was created by Sarah Leigh