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  2. Familial Genetic Generalised Epilepsies
  3. GABRG2
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Familial Genetic Generalised Epilepsies

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

4 reviews

Louise Daugherty (Genomics England Curator)

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

Panel version: 1.18

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.
Created: 24 Aug 2016, 11:59 a.m.

Panel version: 1.7

Richard Scott (Genomics England Curator)

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

Panel version: 0.9

Richard Scott (North Thames GMC/UCL)

Green List (high evidence)

Phenotypes
611277

Publications

Created: 8 May 2016, 6:39 p.m.

Panel version: 0.0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epilepsy, generalized, with febrile seizures plus,type3
  • Febrile seizures, familial, 8
  • 611277
OMIM
137164
Clinvar variants
Variants in GABRG2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

28 Jun 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for GABRG2 were set to Epilepsy, generalized, with febrile seizures plus,type3; Febrile seizures, familial, 8; 611277

24 Aug 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

24 Aug 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for GABRG2 were set to Epilepsy,generalized,withfebrileseizuresplus,type3; Febrile seizures, familial, 8;611277

24 Aug 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for GABRG2 were set to 27066572; 11326275; 11326274

8 May 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

8 May 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

6 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

GABRG2 was added to Familial generalised epilepsypanel. Sources: Radboud University Medical Center, Nijmegen