Early onset dystonia
Gene: VPS11
VPS11 has a provisional association with Dystonia, 32 in OMIM, but is not associated with a phenotype in Gen2Phen. PMID: 33452836 reports a single biallelic variant (c.136C>T, p.P46S) in a proband with adult‐onset generalized dystonia.Created: 4 Apr 2023, 3:40 p.m. | Last Modified: 4 Apr 2023, 3:40 p.m.
Panel Version: 1.132
Early-onset patients present hypomyelination, developmental delay, spasticity and dystonia.
A single adult-onset generalized dystonic patient without additional neurologic signs has been reported. This genetic association needs additional cases to be definitively confirmed.
Sources: LiteratureCreated: 23 Mar 2023, 10:28 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder; Hypomyelination; Microcephaly; Infantile-onset dystonia; Adult-onset dystonia; Spasticity
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: vps11 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: VPS11 were changed from Neurodevelopmental disorder; Hypomyelination; Microcephaly; Infantile-onset dystonia; Adult-onset dystonia; Spasticity to ?Dystonia 32, OMIM:619637; dystonia 32, MONDO:0030486
Publications for gene: VPS11 were set to PMID: 33452836; 27120463; 27473128; 33871597
gene: VPS11 was added gene: VPS11 was added to Early onset dystonia. Sources: Literature Mode of inheritance for gene: VPS11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS11 were set to PMID: 33452836; 27120463; 27473128; 33871597 Phenotypes for gene: VPS11 were set to Neurodevelopmental disorder; Hypomyelination; Microcephaly; Infantile-onset dystonia; Adult-onset dystonia; Spasticity Penetrance for gene: VPS11 were set to Complete Review for gene: VPS11 was set to GREEN gene: VPS11 was marked as current diagnostic