Ataxia and cerebellar anomalies - narrow panel
Gene: SCN8AEnsemblGeneIds (GRCh38): ENSG00000196876
EnsemblGeneIds (GRCh37): ENSG00000196876
OMIM: 600702, Gene2Phenotype
SCN8A is in 14 panels
5 reviews
Ida Ertmanska (Genomics England Curator)
PMID: 38251463 Lyu et al., 2023
Report of 10 individuals from 9 unrelated families with SCN8A variants and chronic progressive or episodic ataxia. 8/10 individuals carried heterozygous variants (2 confirmed de novo); monozygotic twins from family 7 were compound heterozygous for two SCN8A mutations, confirmed in trans - parents unaffected. The twins presented with mild ID/GDD and episodic ataxia - first recessive case?Created: 15 Jan 2026, 5:51 p.m. | Last Modified: 15 Jan 2026, 5:51 p.m.
Panel Version: 8.46
Eleanor Williams (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 5 Feb 2023, 5:18 p.m. | Last Modified: 5 Feb 2023, 5:18 p.m.
Panel Version: 3.30
Arina Puzriakova (Genomics England Curator)
Comment on list classification: Upgraded from Red to Amber but there is enough evidence to rate this gene as Green at the next GMS panel update.Created: 21 Jun 2021, 1:02 p.m. | Last Modified: 21 Jun 2021, 1:02 p.m.
Panel Version: 2.204
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.
Several patients with the other phenotypes (although not including ataxia) have been reported as having cerebellar abnormalities. Mouse Scn8a mutants exhibit movement disorders including ataxia, tremor and dystonia.Created: 21 Jun 2021, 1 p.m. | Last Modified: 21 Jun 2021, 1:10 p.m.
Panel Version: 2.204
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
Zornitza Stark (Australian Genomics)
Ataxia is part of SCN8A-related neurodevelopmental phenotypes.Created: 12 Sep 2020, 7:56 a.m. | Last Modified: 12 Sep 2020, 7:56 a.m.
Panel Version: 2.12
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cognitive impairment with or without cerebellar ataxia, MIM# 614306; Epileptic encephalopathy, early infantile, 13, MIM# 614558
Publications
Variants in this GENE are reported as part of current diagnostic practice
Sarah Leigh (Genomics England Curator)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- 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
- None
- Publications
- Panels with this gene
-
- Intellectual disability
- 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
- DDG2P
- Paediatric or syndromic cardiomyopathy
- Hereditary ataxia
- Early onset or syndromic epilepsy
- Brain channelopathy
- Fetal anomalies
- Paroxysmal central nervous system disorders
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Adult onset neurodegenerative disorder
History Filter Activity
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q2_21_rating was removed from gene: SCN8A.
Added New Source, Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Green was added to SCN8A. Source NHS GMS was added to SCN8A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: scn8a has been classified as Amber List (Moderate Evidence).
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q2_21_rating tag was added to gene: SCN8A.
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: SCN8A were set to
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
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: SCN8A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: SCN8A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Rebecca Foulger: Comment on list classification
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: SCN8A was added gene: SCN8A was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SCN8A were set to Cognitive impairment with or without cerebellar ataxia, 614306