Epileptic encephalopathy
Gene: GABRG2EnsemblGeneIds (GRCh38): ENSG00000113327
EnsemblGeneIds (GRCh37): ENSG00000113327
OMIM: 137164, Gene2Phenotype
GABRG2 is in 8 panels
4 reviews
Amy McTague (UCL Institute of Child Health)
Phenotypes
Epilepsy, childhood absence, susceptibility to, 2
Publications
- Wallace et al (2001) Nature Genet 28: 49-52
Natalie Trump (NHS - Great Ormond Street Hospital)
Phenotypes
Epilepsy, childhood absence, susceptibility to, 2
Publications
- Wallace et al (2001) Nature Genet 28: 49-52
Manju Kurian (UCL-Institute of Child Health)
Phenotypes
Epilepsy, childhood absence, susceptibility to, 2
Publications
- Wallace et al (2001) Nature Genet 28: 49-52
Richard Scott (North Thames GMC/UCL)
Phenotypes
Epilepsy, childhood absence, susceptibility to, 2
Publications
- Wallace et al (2001) Nature Genet 28: 49-52
Details
- Sources
-
- Expert Review Red
- Expert
- OMIM
- 137164
- Clinvar variants
- Variants in GABRG2
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
gel status update
GEL ()The Gel status was updated for this whole panel
Added New Source
Ellen McDonagh (Genomics England Curator)GABRG2 was added to Epileptic encephalopathypanel. Source: Expert Review Red
gel status update
GEL ()The Gel status was updated for this whole panel
Added New Source
Ellen McDonagh (Genomics England Curator)GABRG2 was added to Epileptic encephalopathypanel. Sources: Expert