Genes in panel

Hereditary ataxia - adult onset

Gene: SCN1A

Green List (high evidence)

SCN1A (sodium voltage-gated channel alpha subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000144285
EnsemblGeneIds (GRCh37): ENSG00000144285
OMIM: 182389, Gene2Phenotype
SCN1A is in 15 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)

Dravet syndrome in particular appears to be associated with ataxia. Plenty of cases in lit although I'd query whether seizures are likely to be a more prominent part of phenotype
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Generalised epilepsy with febrile seizures type 2, 604403, Epileptic encephalopathy 6, 607208, Familial febrile seziures 3A, 604403, Familial hemiplegic migraine 3, 609634

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
Phenotypes
  • familial hemiplegic migraine 3
  • Familial febrile seziures 3A, 604403
  • Dravet syndrome
  • several epilepsy, convulsion and migraine disorders.
  • Generalised epilepsy with febrile seizures type 2, 604403
  • Familial hemiplegic migraine 3, 609634
  • Epileptic encephalopathy 6, 607208
OMIM
182389
Clinvar variants
Variants in SCN1A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Apr 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Generalised epilepsy with febrile seizures type 2, 604403; Familial hemiplegic migraine 3, 609634; Familial febrile seziures 3A, 604403; Epileptic encephalopathy 6, 607208 for gene: SCN1A

14 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SCN1A.

14 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to SCN1A.

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: SCN1A was added gene: SCN1A was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: SCN1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SCN1A were set to 16054936; 19332696 Phenotypes for gene: SCN1A were set to Dravet syndrome; several epilepsy, convulsion and migraine disorders.; familial hemiplegic migraine 3