Brain channelopathy
Gene: SCN1AEnsemblGeneIds (GRCh38): ENSG00000144285
EnsemblGeneIds (GRCh37): ENSG00000144285
OMIM: 182389, Gene2Phenotype
SCN1A is in 13 panels
3 reviews
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: Changed complete penetrance to incompleteCreated: 18 Jan 2017, 3:04 p.m.
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted from red to green as this gene is on the Brain Channel NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.Created: 10 Jun 2016, 3:19 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- familial hemiplegic migraine 3
- Dravet syndrome
- several epilepsy, convulsion and migraine disorders.
- OMIM
- 182389
- Clinvar variants
- Variants in SCN1A
- Penetrance
- Incomplete
- Publications
- Panels with this gene
-
- 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
- Early onset or syndromic epilepsy
- DDG2P
- Arthrogryposis
- Intellectual disability
- Brain channelopathy
- Fetal anomalies
- Familial cerebral small vessel disease
- Paroxysmal central nervous system disorders
- Adult onset neurodegenerative disorder
History Filter Activity
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1. January 23 2017
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Arianna Tucci (Genomics England Curator)Phenotypes for SCN1A were set to familial hemiplegic migraine 3; Dravet syndrome; several epilepsy, convulsion and migraine disorders.
Set publications
Arianna Tucci (Genomics England Curator)Publications for SCN1A were set to 16054936; 19332696
Set Mode of Inheritance
Arianna Tucci (Genomics England Curator)Mode of inheritance for SCN1A was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for SCN1A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for SCN1A were set to DRAVET SYNDROME;several epilepsy, convulsion and migraine disorders.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)SCN1A was added to Brain channelopathypanel. Sources: UKGTN