Brain channelopathy
Gene: SCN8AEnsemblGeneIds (GRCh38): ENSG00000196876
EnsemblGeneIds (GRCh37): ENSG00000196876
OMIM: 600702, Gene2Phenotype
SCN8A is in 14 panels
1 review
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: Changed to incomplete penetranceCreated: 19 Jan 2017, 10:44 a.m.
One mutation (c.4447G>A; p.E1483K) described in different families with epilepsy during the first 2 years of life, and at an older age choreo-dystonic or attacks that were brought on by stretching, movement initiation, and/or emotional stimuliCreated: 18 Jan 2017, 12:21 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
epilepsy; paroxysmal kinesigenic dyskinesias
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Seizures, benign familial infantile, 5, OMIM:617080
- Paroxysmal kinesigenic dyskinesias
- OMIM
- 600702
- Clinvar variants
- Variants in SCN8A
- Penetrance
- Incomplete
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Adult onset dystonia, chorea or related movement disorder
- Ataxia and cerebellar anomalies - narrow panel
- Early onset or syndromic epilepsy
- DDG2P
- Paediatric or syndromic cardiomyopathy
- Intellectual disability
- Hereditary ataxia
- Brain channelopathy
- Fetal anomalies
- Paroxysmal central nervous system disorders
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Adult onset neurodegenerative disorder
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SCN8A were changed from epilepsy; paroxysmal kinesigenic dyskinesias to Seizures, benign familial infantile, 5, OMIM:617080; Paroxysmal kinesigenic dyskinesias
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1. January 23 2017
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Arianna Tucci (Genomics England Curator)Publications for SCN8A were set to 26677014
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Arianna Tucci (Genomics England Curator)SCN8A was added to Brain channelopathypanel. Sources: Expert Review
Created
Arianna Tucci (Genomics England Curator)SCN8A was created by arianna