Epileptic encephalopathy
Gene: GABRB3EnsemblGeneIds (GRCh38): ENSG00000166206
EnsemblGeneIds (GRCh37): ENSG00000166206
OMIM: 137192, Gene2Phenotype
GABRB3 is in 4 panels
5 reviews
Amy McTague (UCL Institute of Child Health)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epilepsy, childhood absence, susceptibility to, 5
Publications
- Tanaka et al (2008) Am J Hum Genet 82: 1249_1261
Variants in this GENE are reported as part of current diagnostic practice
Natalie Trump (NHS - Great Ormond Street Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epilepsy, childhood absence, susceptibility to, 5
Publications
- Tanaka et al (2008) Am J Hum Genet 82: 1249_1261
Variants in this GENE are reported as part of current diagnostic practice
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epilepsy, childhood absence, susceptibility to, 5
Publications
- Tanaka et al (2008) Am J Hum Genet 82: 1249_1261
Variants in this GENE are reported as part of current diagnostic practice
Richard Scott (North Thames GMC/UCL)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epilepsy, childhood absence, susceptibility to, 5
Publications
- Tanaka et al (2008) Am J Hum Genet 82: 1249 1261
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment when marking as ready: Confirmed DD gene, and all reviewers agree this should be green.Created: 5 Jan 2016, 11:58 a.m.
Comment on phenotypes: Sources: G2P, OMIM, reviewers.Created: 5 Jan 2016, 11:58 a.m.
Comment on mode of inheritance: Checked the imprinted gene list. Monoallelic confirmed on G2P.Created: 5 Jan 2016, 11:56 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert
- UKGTN
- Phenotypes
-
- Epilepsy, childhood absence, susceptibility to, 5
- EPILEPTIC ENCEPHALOPATHIES
- OMIM
- 137192
- Clinvar variants
- Variants in GABRB3
- Penetrance
- Complete
- Publications
-
- Tanaka et al (2008) Am J Hum Genet 82: 1249_1261
- Panels with this gene
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for GABRB3 were set to Epilepsy, childhood absence, susceptibility to, 5; EPILEPTIC ENCEPHALOPATHIES
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for GABRB3 were set to Epilepsy, childhood absence, susceptibility to, 5; EPILEPTIC ENCEPHALOPATHIES
Set publications
Ellen McDonagh (Genomics England Curator)Publications for GABRB3 were set to Tanaka et al (2008) Am J Hum Genet 82: 1249_1261
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for GABRB3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gel status update
GEL ()The Gel status was updated for this whole panel
Upload gene information
Ellen McDonagh (Genomics England Curator)GABRB3 was added to Epileptic encephalopathypanel. Sources: Expert Review Green
Upload gene information
Ellen McDonagh (Genomics England Curator)GABRB3 was added to Epileptic encephalopathypanel. Sources: Expert Review Green
Upload gene information
Ellen McDonagh (Genomics England Curator)GABRB3 was added to Epileptic encephalopathypanel. Sources: Expert Review Green
gel status update
GEL ()The Gel status was updated for this whole panel
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene GABRB3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)GABRB3 was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)GABRB3 was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert