Hereditary ataxia

Gene: SCN8A

Red List (low evidence)

SCN8A (sodium voltage-gated channel alpha subunit 8)
EnsemblGeneIds (GRCh38): ENSG00000196876
EnsemblGeneIds (GRCh37): ENSG00000196876
OMIM: 600702, Gene2Phenotype
SCN8A is in 14 panels

2 reviews

Damian Smedley (Genomics England Curator)

Comment on list classification: Single case and with inconclusive evidence in OMIM
Created: 4 Feb 2016, 2:27 p.m.

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

Red List (low evidence)

Not convincing - only a single family since 2006. Not on our panel. Mode of pathogenicity: loss-of-function/haploinsufficiency.
Created: 24 Nov 2015, 4:57 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Cognitive impairment with or without cerebellar ataxia, 614306

Details

History Filter Activity

4 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

4 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

6 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SCN8A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

6 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

SCN8A was added to Hereditary ataxiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen

6 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SCN8A was added to Hereditary ataxiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen