Epileptic encephalopathy
Gene: GABRB3
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epilepsy, childhood absence, susceptibility to, 5
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epilepsy, childhood absence, susceptibility to, 5
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epilepsy, childhood absence, susceptibility to, 5
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epilepsy, childhood absence, susceptibility to, 5
Publications
Variants in this GENE are reported as part of current diagnostic practice
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.
This gene has been classified as Green List (High Evidence).
Phenotypes for GABRB3 were set to Epilepsy, childhood absence, susceptibility to, 5; EPILEPTIC ENCEPHALOPATHIES
Phenotypes for GABRB3 were set to Epilepsy, childhood absence, susceptibility to, 5; EPILEPTIC ENCEPHALOPATHIES
Publications for GABRB3 were set to Tanaka et al (2008) Am J Hum Genet 82: 1249_1261
Mode of inheritance for GABRB3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
The Gel status was updated for this whole panel
GABRB3 was added to Epileptic encephalopathypanel. Sources: Expert Review Green
GABRB3 was added to Epileptic encephalopathypanel. Sources: Expert Review Green
GABRB3 was added to Epileptic encephalopathypanel. Sources: Expert Review Green
The Gel status was updated for this whole panel
Model of inheritance for gene GABRB3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
GABRB3 was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert
GABRB3 was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert