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| Dystonia - isolated/combined v1.16 | VPS11 | Zornitza Stark Phenotypes for gene: VPS11 were changed from Dystonia, adult-onset to Dystonia 32, MIM# 619637; Dystonia, adult-onset | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v1.15 | VPS11 | Zornitza Stark edited their review of gene: VPS11: Changed phenotypes: Dystonia 32, MIM# 619637, Dystonia, adult-onset | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v0.29 | VPS11 | Zornitza Stark Marked gene: VPS11 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v0.29 | VPS11 | Zornitza Stark Gene: vps11 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v0.29 | VPS11 |
Zornitza Stark 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 Added comment: 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: Literature |
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