Childhood onset dystonia, chorea or related movement disorder
Gene: SCN1A
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 14 Mar 2022, 10:59 a.m. | Last Modified: 14 Mar 2022, 10:59 a.m.
Panel Version: 1.217
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 4:45 p.m. | Last Modified: 3 Mar 2022, 4:45 p.m.
Panel Version: 1.212
A non-Dravet syndrome epileptic encephalopathy phenotype associated with SCN1A variants. Eight cases carriers of p.Thr226Met shared this non-typical phenotype. This phenotype is not represented in OMIM, but they have been notified of the reporting publication (PMID 28794249), additional phenotype may be added to OMIM in the future.Created: 4 May 2021, 3:52 p.m. | Last Modified: 4 May 2021, 3:52 p.m.
Panel Version: 1.94
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 4 May 2021, 3:42 p.m. | Last Modified: 4 May 2021, 3:42 p.m.
Panel Version: 1.94
Sadleir et al., 2017 (pmid: 28794249) reported 9 individuals with non-Dravet recurrent de novo missense variant (not LoF) in children with DD, epilepsy and movement disorders in all individualsCreated: 30 Apr 2021, 8:55 a.m. | Last Modified: 30 Apr 2021, 8:55 a.m.
Panel Version: 1.92
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
seizures; developmental delay; dystonia; choreoathetosis
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Tag Q2_21_phenotype was removed from gene: SCN1A.
Source Expert Review Green was added to SCN1A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_21_phenotype tag was added to gene: SCN1A.
Gene: scn1a has been classified as Amber List (Moderate Evidence).
Publications for gene: SCN1A were set to 19332696; 16054936
Source PanelApp was added to SCN1A. Mode of inheritance for gene SCN1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes several epilepsy, convulsion and migraine disorders.; familial hemiplegic migraine 3; Dravet syndrome for gene: SCN1A Publications for gene SCN1A were changed from to 19332696; 16054936
gene: SCN1A was added gene: SCN1A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH Mode of inheritance for gene: SCN1A was set to