Dystonia - isolated/combined
Gene: VPS11EnsemblGeneIds (GRCh38): ENSG00000160695
EnsemblGeneIds (GRCh37): ENSG00000160695
OMIM: 608549, Gene2Phenotype
VPS11 is in 8 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Single individual reported with adult-onset generalised dystonia and homozygous missense variant in this gene. Note bi-allelic variants in this gene are associated with a leukodystrophy.
Sources: LiteratureCreated: 7 Apr 2021, 10:26 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dystonia 32, MIM# 619637; Dystonia, adult-onset
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Dystonia 32, MIM# 619637
- Dystonia, adult-onset
- OMIM
- 608549
- Clinvar variants
- Variants in VPS11
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: VPS11 were changed from Dystonia, adult-onset to Dystonia 32, MIM# 619637; Dystonia, adult-onset
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: vps11 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: VPS11 was added gene: VPS11 was added to Dystonia - isolated/combined. Sources: Literature Mode of inheritance for gene: VPS11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS11 were set to 33452836 Phenotypes for gene: VPS11 were set to Dystonia, adult-onset Review for gene: VPS11 was set to RED