Brain channelopathy

Gene: SCN8A

Green List (high evidence)

SCN8A (sodium voltage-gated channel alpha subunit 8)
EnsemblGeneIds (GRCh38): ENSG00000196876
EnsemblGeneIds (GRCh37): ENSG00000196876
OMIM: 600702, Gene2Phenotype
SCN8A is in 15 panels

1 review

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Changed to incomplete penetrance
Created: 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 stimuli
Created: 18 Jan 2017, 12:21 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
epilepsy; paroxysmal kinesigenic dyskinesias

Publications

History Filter Activity

21 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

23 Jan 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1. January 23 2017

19 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Jan 2017, Gel status: 4

Set publications

Arianna Tucci (Genomics England Curator)

Publications for SCN8A were set to 26677014

19 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

18 Jan 2017, Gel status: 0

Added New Source

Arianna Tucci (Genomics England Curator)

SCN8A was added to Brain channelopathypanel. Sources: Expert Review

18 Jan 2017, Gel status: 0

Created

Arianna Tucci (Genomics England Curator)

SCN8A was created by arianna