Epileptic encephalopathy
Gene: GABRA1EnsemblGeneIds (GRCh38): ENSG00000022355
EnsemblGeneIds (GRCh37): ENSG00000022355
OMIM: 137160, Gene2Phenotype
GABRA1 is in 4 panels
5 reviews
Amy McTague (UCL Institute of Child Health)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epileptic encephalopathy, early infantile, 19
Publications
- Carvill et al (2014) Neurology 82: 1245-1253
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
Epileptic encephalopathy, early infantile, 19
Publications
- Carvill et al (2014) Neurology 82: 1245-1253
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
Epileptic encephalopathy, early infantile, 19
Publications
- Carvill et al (2014) Neurology 82: 1245-1253
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
Epileptic encephalopathy, early infantile, 19
Publications
- Carvill et al (2014) Neurology 82: 1245-1253
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
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.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert
- Phenotypes
-
- Epileptic encephalopathy, early infantile, 19
- EPILEPTIC ENCEPHALOPATHY
- OMIM
- 137160
- Clinvar variants
- Variants in GABRA1
- Penetrance
- Complete
- Publications
-
- Carvill et al (2014) Neurology 82: 1245-1253
- 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 GABRA1 were set to Epileptic encephalopathy, early infantile, 19; EPILEPTIC ENCEPHALOPATHY
Set publications
Ellen McDonagh (Genomics England Curator)Publications for GABRA1 were set to Carvill et al (2014) Neurology 82: 1245-1253
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for GABRA1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gel status update
GEL ()The Gel status was updated for this whole panel
Added New Source
Ellen McDonagh (Genomics England Curator)GABRA1 was added to Epileptic encephalopathypanel. Source: Expert Review Green
gel status update
GEL ()The Gel status was updated for this whole panel
Added New Source
Ellen McDonagh (Genomics England Curator)GABRA1 was added to Epileptic encephalopathypanel. Sources: Expert