Early onset or syndromic epilepsy
Gene: GABRA1
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
AD Early infantile epileptic encepalopathy. 3 unrelated cases - de novo heterozygous missense mutations identified in all. In vitro studies on 2 of these undertaken.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, 19,615744; {Epilepsy, childhood absence, susceptibility to, 4},611136; {Epilepsy, juvenile myoclonic, susceptibility to, 5},611136
Publications
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epileptic encephalopathy, early infantile, 19
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epileptic encephalopathy, early infantile, 19
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epileptic encephalopathy, early infantile, 19
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epileptic encephalopathy, early infantile, 19
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: OkCreated: 8 May 2016, 7:02 p.m.
Comment when marking as ready: All reviews agree this gene should be green. It has probable DD gene status.Created: 5 Jan 2016, 11:54 a.m.
Comment on mode of inheritance: Checked the imprinted gene list.Created: 5 Jan 2016, 11:53 a.m.
Publications for gene: GABRA1 were set to 24623842; 11992121; 21714819; 16718694
Source Wessex and West Midlands GLH was added to GABRA1.
Source NHS GMS was added to GABRA1.
Ellen McDonagh: Comment on mode of inheritance
NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to GABRA1. Panel: Genetic Epilepsy Syndromes
Victorian Clinical Genetics Services was added to GABRA1. Panel: Genetic Epilepsy Syndromes
Phenotypes for GABRA1 were set to {Epilepsy, childhood absence, susceptibility to, 4} 611136; {Epilepsy, juvenile myoclonic, susceptibility to, 5} 611136
Publications for GABRA1 were set to 24623842; 11992121; 21714819; 16718694
GABRA1 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Expert
GABRA1 was created by Sarah Leigh