Early onset or syndromic epilepsy

Gene: GABRG2

I don't know

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

Green List (high evidence)

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

• 11748509
• 27066572

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.

Red List (low evidence)

Phenotypes
Epilepsy, childhood absence, susceptibility to, 2

Publications

• Wallace et al (2001) Nature Genet 28: 49-52

Red List (low evidence)

Phenotypes
Epilepsy, childhood absence, susceptibility to, 2

Publications

• Wallace et al (2001) Nature Genet 28: 49-52

Red List (low evidence)

Phenotypes
Epilepsy, childhood absence, susceptibility to, 2

Publications

• Wallace et al (2001) Nature Genet 28: 49-52

Red List (low evidence)

Phenotypes
Epilepsy, childhood absence, susceptibility to, 2

Publications

• Wallace et al (2001) Nature Genet 28: 49-52

Comment on phenotypes: amended format issue

Created: 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 grade

Created: 8 May 2016, 7:02 p.m.