Childhood onset dystonia, chorea or related movement disorder

Gene: SCN1A

Green List (high evidence)

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

Green List (high evidence)

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 individuals

Created: 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

• 28794249

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

I don't know