This Panel is marked as Retired
Familial Focal Epilepsies
Gene: SCN1A
SCN1A (sodium voltage-gated channel alpha subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000144285
EnsemblGeneIds (GRCh37): ENSG00000144285
OMIM: 182389, Gene2Phenotype
SCN1A is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000144285
EnsemblGeneIds (GRCh37): ENSG00000144285
OMIM: 182389, Gene2Phenotype
SCN1A is in 13 panels
1 review
Richard Scott (Genomics England Curator)
Variable phenotype, which can include focal epilepsyCreated: 1 Feb 2016, 11:39 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
607208
Publications
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 Green
- Literature
- Phenotypes
-
- 607208
- OMIM
- 182389
- Clinvar variants
- Variants in SCN1A
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Hereditary ataxia with onset in adulthood
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Early onset or syndromic epilepsy
- Adult onset dystonia, chorea or related movement disorder
- Adult onset neurodegenerative disorder
- Fetal anomalies
- DDG2P
- Brain channelopathy
- Familial cerebral small vessel disease
- Ataxia and cerebellar anomalies - narrow panel
- Arthrogryposis
- Paroxysmal central nervous system disorders
History Filter Activity
1 Feb 2016, Gel status: 4
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
1 Feb 2016, Gel status: 4
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
1 Feb 2016, Gel status: 0
Added New Source
Richard Scott (Genomics England Curator)SCN1A was added to Familial Focal Epilepsiespanel. Sources: Literature
1 Feb 2016, Gel status: 0
Created
Richard Scott (Genomics England Curator)SCN1A was created by richardhywel