This Panel is marked as Internal
Dystonia - childhood onset
Gene: SCN8A
SCN8A (sodium voltage-gated channel alpha subunit 8)
EnsemblGeneIds (GRCh38): ENSG00000196876
EnsemblGeneIds (GRCh37): ENSG00000196876
OMIM: 600702, Gene2Phenotype
SCN8A is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000196876
EnsemblGeneIds (GRCh37): ENSG00000196876
OMIM: 600702, Gene2Phenotype
SCN8A is in 14 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- epilepsy
- paroxysmal kinesigenic dyskinesias
- OMIM
- 600702
- Clinvar variants
- Variants in SCN8A
- Penetrance
- None
- Publications
- Panels with this gene
-
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Hereditary ataxia with onset in adulthood
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset dystonia, chorea or related movement disorder
- Adult onset neurodegenerative disorder
- Intellectual disability
- Hereditary ataxia
- DDG2P
- Brain channelopathy
- Ataxia and cerebellar anomalies - narrow panel
- Early onset or syndromic epilepsy
- Paroxysmal central nervous system disorders
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: SCN8A was added gene: SCN8A was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SCN8A were set to 26677014 Phenotypes for gene: SCN8A were set to epilepsy; paroxysmal kinesigenic dyskinesias