Early onset or syndromic epilepsy
Gene: GABRG2
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 suscetibility to childhood absence epilepsy 2 (ECA2), generalised epilepsy with febrile sizures type 3 (GEFSP3) and familial febrile seizures 8 (FEB8).Mutstions in this gene lead to a spectrum of seizure disorders ranging from early onset isolated febrile seizures to generalised epilepsy with febrile seizures plus, type 3 which represents a more severe phenotype. Baulac et al, 2001 - het GABRG2 missense variant K289M and anlayis of mutated and wild type alleles in Xenopus laevis oocytes - confirmed the predicted effect of the mutation. Wallace et al, 2001 - 4 generation family with febrile seizures and childhood absence epilepsy - het missense variant R43Q. Kananura et al, 2002 - German family father and 2 children aff - all had a truncating variant. Many more variants reported on HGMD Pro in association with an epilepsy/seizure phenotype.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
Epilepsy, generalized, with febrile seizures plus, type 3,611277; Febrile seizures, familial, 8,611277; {Epilepsy, childhood absence, susceptibility to, 2},607681
Publications
Comment on list classification: Diagnostic grade (Richard Scott on Familial Genetic Generalised Epilepsies panel 8 May 2016)Created: 4 Apr 2018, 2:30 p.m.
Phenotypes
Epilepsy, childhood absence, susceptibility to, 2
Publications
Phenotypes
Epilepsy, childhood absence, susceptibility to, 2
Publications
Phenotypes
Epilepsy, childhood absence, susceptibility to, 2
Publications
Phenotypes
Epilepsy, childhood absence, susceptibility to, 2
Publications
Comment on phenotypes: amended format issueCreated: 28 Jun 2017, 7:50 a.m.
Comment on mode of inheritance: Mode of inheritance added as was missing. Checked on OMIM and Gene2Phenotype.Created: 24 Aug 2016, 11:59 a.m.
Comment when marking as ready: Diagnostic gradeCreated: 8 May 2016, 7:02 p.m.
Publications for gene: GABRG2 were set to 27066572; 11326275; 11326274; 34957497
Publications for gene: GABRG2 were set to 27066572; 11326275; 11326274
Source Wessex and West Midlands GLH was added to GABRG2.
Source NHS GMS was added to GABRG2.
Richard Scott: Comment when marking as ready:
NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to GABRG2. Panel: Genetic Epilepsy Syndromes
Victorian Clinical Genetics Services was added to GABRG2. Panel: Genetic Epilepsy Syndromes
This gene has been classified as Green List (High Evidence).
Publications for GABRG2 were set to 27066572; 11326275; 11326274
Phenotypes for GABRG2 were set to Epilepsy, generalized, with febrile seizures plus, type 3 611277; Febrile seizures, familial, 8 611277; {Epilepsy, childhood absence, susceptibility to, 2} 607681
Mode of inheritance for GABRG2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
GABRG2 was added to Genetic Epilepsy Syndromes panel. Sources: Expert,Expert Review Red
GABRG2 was created by Sarah Leigh