Ataxia and cerebellar anomalies - narrow panel
Gene: SCN1A
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
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
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
Tag Q2_21_rating was removed from gene: SCN1A.
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)
Tag Q2_21_rating tag was added to gene: SCN1A.
Publications for gene: SCN1A were set to 27264139; 27817982; 28732259
Gene: scn1a has been classified as Amber List (Moderate Evidence).
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
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