This Panel is marked as Retired
Epilepsy Plus
Gene: GABRG2
GABRG2 (gamma-aminobutyric acid type A receptor gamma2 subunit)
EnsemblGeneIds (GRCh38): ENSG00000113327
EnsemblGeneIds (GRCh37): ENSG00000113327
OMIM: 137164, Gene2Phenotype
GABRG2 is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000113327
EnsemblGeneIds (GRCh37): ENSG00000113327
OMIM: 137164, Gene2Phenotype
GABRG2 is in 8 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Expert Review Green
- Phenotypes
-
- Epilepsy,generalized,withfebrileseizuresplus,type3
- Febrile seizures, familial, 8
- 611277
- Generalized Epilepsy with Febrile Seizures Plus
- Epilepsy, generalized, with febrile seizures plus, type 3
- OMIM
- 137164
- Clinvar variants
- Variants in GABRG2
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
8 Sep 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)GABRG2 was added to Epilepsy Pluspanel. Source: Expert
8 Sep 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)GABRG2 was added to Epilepsy Pluspanel. Source: UKGTN GABRG2 was added to Epilepsy Pluspanel. Source: Illumina TruGenome Clinical Sequencing Services
8 Sep 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)GABRG2 was added to Epilepsy Pluspanel. Sources: Radboud University Medical Center, Nijmegen,Expert Review Green
8 Sep 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)GABRG2 was created by ellenmcdonagh