Genes in panel

Hereditary ataxia - adult onset

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

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Only a single paper linked to the OMIM ataxia phenotype; however, several patients with the other phenotypes reported as having cerebellar abnormalities
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cognitive impairment with or without cerebellar ataxia, 614306, Epileptic encephalopathy 13, 614558, Benign familial infantile seizures 5, 617080

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • Brain channelopathy v1.46
  • Hereditary ataxia v1.148
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

History Filter Activity

21 Jun 2021, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: SCN8A were set to 26677014

21 Jun 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SCN8A were changed from epilepsy; paroxysmal kinesigenic dyskinesias; Epileptic encephalopathy 13, 614558; Benign familial infantile seizures 5, 617080; 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

15 Apr 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Cognitive impairment with or without cerebellar ataxia, 614306; Epileptic encephalopathy 13, 614558; Benign familial infantile seizures 5, 617080 for gene: SCN8A

14 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SCN8A.

14 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to SCN8A.

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked panel against panel constituents. Ready to promote to version 1.

15 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: SCN8A was added gene: SCN8A was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SCN8A were set to 26677014 Phenotypes for gene: SCN8A were set to paroxysmal kinesigenic dyskinesias; epilepsy; Cognitive impairment with or without cerebellar ataxia, 614306