Epileptic encephalopathy
Gene: CHRNA2EnsemblGeneIds (GRCh38): ENSG00000120903
EnsemblGeneIds (GRCh37): ENSG00000120903
OMIM: 118502, Gene2Phenotype
CHRNA2 is in 3 panels
6 reviews
Sarah Leigh (Genomics England Curator)
Variants in CHRNA2 do not appear to be associated with autosomal dominant nocturnal frontal lobe epilepsy in Chinese population.Created: 11 Dec 2017, 3:06 p.m.
Publications
Amy McTague (UCL Institute of Child Health)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epilepsy, nocturnal frontal lobe, type 4
Publications
- Aridon et al (2006) Am J Hum Genet 79: 342-350
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, nocturnal frontal lobe, type 4
Publications
- Aridon et al (2006) Am J Hum Genet 79: 342-350
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, nocturnal frontal lobe, type 4
Publications
- Aridon et al (2006) Am J Hum Genet 79: 342-350
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Discussion amoungst reviewers by email concluded that this should be rated red. In gene2phenotype it is a possible DD gene, associated with autosomal dominant nocturnal frontal lobe epilepsy.Created: 17 Dec 2015, 3:19 p.m.
Comment on mode of inheritance: Checked the imprinted gene list.Created: 17 Dec 2015, 3:14 p.m.
Richard Scott (North Thames GMC/UCL)
Causes a different seizure phenotypeCreated: 16 Dec 2015, 10:24 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epilepsy, nocturnal frontal lobe, type 4
Publications
- Aridon et al (2006) Am J Hum Genet 79: 342-350
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Expert
- Phenotypes
-
- Epilepsy, nocturnal frontal lobe, type 4
- OMIM
- 118502
- Clinvar variants
- Variants in CHRNA2
- Penetrance
- Complete
- Publications
-
- Aridon et al (2006) Am J Hum Genet 79: 342-350
- Panels with this gene
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for CHRNA2 were set to Aridon et al (2006) Am J Hum Genet 79: 342-350
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for CHRNA2 were set to Epilepsy, nocturnal frontal lobe, type 4
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for CHRNA2 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)CHRNA2 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)CHRNA2 was added to Epileptic encephalopathypanel. Sources: Expert