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  2. Genetic Epilepsies with Febrile Seizures Plus (GEFS+)
  3. GABRG2
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Genetic Epilepsies with Febrile Seizures Plus (GEFS+)

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

1 review

Richard Scott (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
611277

Publications

Created: 8 May 2016, 6:53 p.m.

Panel version: 0.1

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Generalized Epilepsy with Febrile Seizures Plus
  • Epilepsy, generalized, with febrile seizures plus, type 3
  • Febrile seizures, familial, 8
  • 611277
OMIM
137164
Clinvar variants
Variants in GABRG2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

24 Aug 2016, Gel status: 3

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for GABRG2 were set to Generalized Epilepsy with Febrile Seizures Plus; Epilepsy, generalized, with febrile seizures plus, type 3; Febrile seizures, familial, 8;611277

24 Aug 2016, Gel status: 3

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for GABRG2 were set to 27066572; 11326275; 11326274

24 Aug 2016, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for GABRG2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

6 May 2015, Gel status: 3

Added New Source

Eik Haraldsdottir (Genomics England)

GABRG2 was added to Genetic Epilepsy with Febrile Seizures plus (GEFS+)panel. Sources: Radboud University Medical Center, Nijmegen

6 May 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

GABRG2 was added to Genetic Epilepsy with Febrile Seizures plus (GEFS+)panel. Sources: Illumina TruGenome Clinical Sequencing Services

6 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

GABRG2 was added to Genetic Epilepsy with Febrile Seizures plus (GEFS+)panel. Sources: UKGTN