Familial cerebral small vessel disease

Gene: SCN1A

Red List (low evidence)

SCN1A (sodium voltage-gated channel alpha subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000144285
EnsemblGeneIds (GRCh37): ENSG00000144285
OMIM: 182389, Gene2Phenotype
SCN1A is in 16 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Subcortical white matter hyper-intensities not always associated with these phenotypes
Created: 4 Jul 2016, 2:36 p.m.
Comment on list classification: Tier 1 gene for Cerebral Small Vessel Disorders in BRIDGE Study
Created: 4 Jul 2016, 2:30 p.m.

Rhea Tan (University of Cambridge)

Red List (low evidence)

Subcortical white matter hyperintensities have been reported in one family with Familial Hemiplegic Migraine (FHM3). White matter hyperintensities have also been reported in patients with Dravet Syndrome (Severe myoclonic epilepsy of infancy) due to SCN1A mutations.
Created: 23 Jun 2016, 4:05 p.m.

Phenotypes
Familial Hemiplegic Migraine; Migraine; Cerebral small vessel disease

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cerebral small vessel disease
  • Dravet syndrome 607208
  • Epilepsy, generalized, with febrile seizures plus, type 2 604403
  • Febrile seizures, familial, 3A 604403
  • Migraine, familial hemiplegic, 3 609634
OMIM
182389
Clinvar variants
Variants in SCN1A
Penetrance
Complete
Panels with this gene

History Filter Activity

4 Jul 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for SCN1A were set to Cerebral small vessel disease; Dravet syndrome 607208; Epilepsy, generalized, with febrile seizures plus, type 2 604403; Febrile seizures, familial, 3A 604403; Migraine, familial hemiplegic, 3 609634

4 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

4 Jul 2016, Gel status: 1

Upload gene information

Sarah Leigh (Genomics England Curator)

SCN1A was added to Familial cerebral small vessel diseasepanel. Sources: Expert list

4 Jul 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for SCN1A were set to Cerebral small vessel disease; Dravet syndrome 607208; Epilepsy, generalized, with febrile seizures plus, type 2 604403; Febrile seizures, familial, 3A 604403; Migraine, familial hemiplegic, 3 609634

4 Jul 2016, Gel status: 1

Upload gene information

Sarah Leigh (Genomics England Curator)

SCN1A was added to Familial cerebral small vessel diseasepanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services

4 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

22 Jun 2016, Gel status: 0

Added New Source

Rhea Tan (University of Cambridge)

SCN1A was added to Familial cerebral small vessel diseasepanel. Sources: Literature

22 Jun 2016, Gel status: 0

Created

Rhea Tan (University of Cambridge)

SCN1A was created by rheatan