Ataxia and cerebellar anomalies - narrow panel
Gene: SCN1AEnsemblGeneIds (GRCh38): ENSG00000144285
EnsemblGeneIds (GRCh37): ENSG00000144285
OMIM: 182389, Gene2Phenotype
SCN1A is in 13 panels
3 reviews
Eleanor Williams (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 5 Feb 2023, 5:18 p.m. | Last Modified: 5 Feb 2023, 5:18 p.m.
Panel Version: 3.30
Sarah Leigh (Genomics England Curator)
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 9 variants reported in unrelated cases.Created: 4 May 2021, 3:18 p.m. | Last Modified: 4 May 2021, 3:18 p.m.
Panel Version: 2.156
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 4 May 2021, 3:14 p.m. | Last Modified: 4 May 2021, 3:14 p.m.
Panel Version: 2.155
Zornitza Stark (Australian Genomics)
Ataxia is part of the phenotype.
Sources: Expert listCreated: 12 Sep 2020, 7:49 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM# 607208
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Dravet syndrome OMIM:607208
- developmental and epileptic encephalopathy, 6 MONDO:0100079
- OMIM
- 182389
- Clinvar variants
- Variants in SCN1A
- Penetrance
- None
- Publications
- Panels with this gene
-
- Intellectual disability
- 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
- DDG2P
- Arthrogryposis
- Early onset or syndromic epilepsy
- Brain channelopathy
- Fetal anomalies
- Familial cerebral small vessel disease
- Paroxysmal central nervous system disorders
- Adult onset neurodegenerative disorder
History Filter Activity
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q2_21_rating was removed from gene: SCN1A.
Added New Source, Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Green was added to SCN1A. Source NHS GMS was added to SCN1A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q2_21_rating tag was added to gene: SCN1A.
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: SCN1A were set to 27264139; 27817982; 28732259
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: scn1a has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: SCN1A were changed from Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM# 607208 to Dravet syndrome OMIM:607208; developmental and epileptic encephalopathy, 6 MONDO:0100079
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: SCN1A was added gene: SCN1A was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list Mode of inheritance for gene: SCN1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SCN1A were set to 27264139; 27817982; 28732259 Phenotypes for gene: SCN1A were set to Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM# 607208 Review for gene: SCN1A was set to GREEN gene: SCN1A was marked as current diagnostic