Familial cerebral small vessel disease
Gene: SCN1AEnsemblGeneIds (GRCh38): ENSG00000144285
EnsemblGeneIds (GRCh37): ENSG00000144285
OMIM: 182389, Gene2Phenotype
SCN1A is in 13 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Subcortical white matter hyper-intensities not always associated with these phenotypesCreated: 4 Jul 2016, 2:36 p.m.
Comment on list classification: Tier 1 gene for Cerebral Small Vessel Disorders in BRIDGE StudyCreated: 4 Jul 2016, 2:30 p.m.
Rhea Tan (University of Cambridge)
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
-
- Hereditary ataxia with onset in adulthood
- Early onset or syndromic epilepsy
- Arthrogryposis
- Intellectual disability
- Adult onset dystonia, chorea or related movement disorder
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Brain channelopathy
- Familial cerebral small vessel disease
- Paroxysmal central nervous system disorders
- Fetal anomalies
- Ataxia and cerebellar anomalies - narrow panel
- Adult onset neurodegenerative disorder
History Filter Activity
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
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Upload gene information
Sarah Leigh (Genomics England Curator)SCN1A was added to Familial cerebral small vessel diseasepanel. Sources: Expert list
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
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
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Rhea Tan (University of Cambridge)SCN1A was added to Familial cerebral small vessel diseasepanel. Sources: Literature
Created
Rhea Tan (University of Cambridge)SCN1A was created by rheatan