Hereditary ataxia

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 14 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Upgraded from Red to Green - there is now a sufficient number of unrelated cases (>3) presenting ataxia in association with variants in the gene, supported by an animal model.
Created: 21 Jun 2021, 1:05 p.m. | Last Modified: 21 Jun 2021, 1:05 p.m.
Panel Version: 1.227
SCN8A is associated with a range of phenotypes including epilepsy, neurodevelopmental defects, and movement disorders. Some individuals with deleterious SCN8A variants develop ataxia - at least 14 individuals with ataxia reported in literature (see publications list). Variable age of onset - mostly during childhood but adult-onset cases have also been described. Mouse Scn8a mutants exhibit movement disorders including ataxia, tremor and dystonia.
Created: 21 Jun 2021, 1:04 p.m. | Last Modified: 21 Jun 2021, 1:10 p.m.
Panel Version: 1.228

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

Phenotypes
Cognitive impairment with or without cerebellar ataxia, OMIM:614306; Developmental and epileptic encephalopathy 13, OMIM:614558

Publications

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

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cognitive impairment with or without cerebellar ataxia, OMIM:614306
  • Developmental and epileptic encephalopathy 13, OMIM:614558
OMIM
600702
Clinvar variants
Variants in SCN8A
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

21 Jun 2021, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: SCN8A were set to

21 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: scn8a has been classified as Green List (High Evidence).

21 Jun 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SCN8A were changed from Cognitive impairment with or without cerebellar ataxia, 614306 to Cognitive impairment with or without cerebellar ataxia, OMIM:614306; Developmental and epileptic encephalopathy 13, OMIM:614558

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