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  3. VPS11
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Early onset dystonia

Gene: VPS11

Amber List (moderate evidence)
VPS11 (VPS11, CORVET/HOPS core subunit)
EnsemblGeneIds (GRCh38): ENSG00000160695
EnsemblGeneIds (GRCh37): ENSG00000160695
OMIM: 608549, Gene2Phenotype
VPS11 is in 6 panels

2 reviews

Sarah Leigh (Genomics England Curator)

I don't know

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
Created: 4 Apr 2023, 3:40 p.m.
Last Modified: 4 Apr 2023, 3:40 p.m.
Panel version: 1.132

Edoardo Monfrini (University of Milan)

Green List (high evidence)

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: Literature
Created: 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

Created: 23 Mar 2023, 10:28 a.m.

Panel version: 1.130

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • ?Dystonia 32, OMIM:619637
  • dystonia 32, MONDO:0030486
OMIM
608549
Clinvar variants
Variants in VPS11
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

4 Apr 2023, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: vps11 has been classified as Amber List (Moderate Evidence).

4 Apr 2023, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

4 Apr 2023, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: VPS11 were set to PMID: 33452836; 27120463; 27473128; 33871597

23 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Edoardo Monfrini (University of Milan)

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