Epileptic encephalopathy
Gene: GABRA1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epileptic encephalopathy, early infantile, 19
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epileptic encephalopathy, early infantile, 19
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epileptic encephalopathy, early infantile, 19
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epileptic encephalopathy, early infantile, 19
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: All reviews agree this gene should be green. It has probable DD gene status.Created: 5 Jan 2016, 11:54 a.m.
Comment on mode of inheritance: Checked the imprinted gene list.Created: 5 Jan 2016, 11:53 a.m.
This gene has been classified as Green List (High Evidence).
Phenotypes for GABRA1 were set to Epileptic encephalopathy, early infantile, 19; EPILEPTIC ENCEPHALOPATHY
Publications for GABRA1 were set to Carvill et al (2014) Neurology 82: 1245-1253
Mode of inheritance for GABRA1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
The Gel status was updated for this whole panel
GABRA1 was added to Epileptic encephalopathypanel. Source: Expert Review Green
The Gel status was updated for this whole panel
GABRA1 was added to Epileptic encephalopathypanel. Sources: Expert