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Genetic epilepsy syndromes

Gene: GABRG2

Green List (high evidence)

GABRG2 (gamma-aminobutyric acid type A receptor gamma2 subunit)
EnsemblGeneIds (GRCh38): ENSG00000113327
EnsemblGeneIds (GRCh37): ENSG00000113327
OMIM: 137164, Gene2Phenotype
GABRG2 is in 8 panels

10 reviews

Rebecca Foulger (Genomics England curator)

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

Tracy Lester (Genetics laboratory, Oxford UK)

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

Sarah Leigh (Genomics England Curator)

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.

Amy McTague (UCL Institute of Child Health)

Red List (low evidence)

Phenotypes
Epilepsy, childhood absence, susceptibility to, 2

Publications

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

Natalie Trump (NHS - Great Ormond Street Hospital)

Red List (low evidence)

Phenotypes
Epilepsy, childhood absence, susceptibility to, 2

Publications

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

Manju Kurian (UCL-Institute of Child Health)

Red List (low evidence)

Phenotypes
Epilepsy, childhood absence, susceptibility to, 2

Publications

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

Richard Scott (North Thames GMC/UCL)

Red List (low evidence)

Phenotypes
Epilepsy, childhood absence, susceptibility to, 2

Publications

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

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: amended format issue
Created: 28 Jun 2017, 7:50 a.m.

Ellen McDonagh (Genomics England Curator)

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.

Richard Scott (Genomics England Curator)

Comment when marking as ready: Diagnostic grade
Created: 8 May 2016, 7:02 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert
Phenotypes
  • Epilepsy, generalized, with febrile seizures plus, type 3 611277
  • Febrile seizures, familial, 8 611277
  • {Epilepsy, childhood absence, susceptibility to, 2} 607681
OMIM
137164
Clinvar variants
Variants in GABRG2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to GABRG2.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to GABRG2.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Richard Scott: Comment when marking as ready:

26 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to GABRG2. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to GABRG2. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 3

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

4 Apr 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for GABRG2 were set to 27066572; 11326275; 11326274

4 Apr 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

4 Apr 2018, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for GABRG2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

4 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

GABRG2 was added to Genetic Epilepsy Syndromes panel. Sources: Expert,Expert Review Red

4 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

GABRG2 was created by Sarah Leigh