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  2. Dystonia - isolated/combined
  3. VPS16
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Dystonia - isolated/combined

Gene: VPS16

Green List (high evidence)
VPS16 (VPS16, CORVET/HOPS core subunit)
EnsemblGeneIds (GRCh38): ENSG00000215305
EnsemblGeneIds (GRCh37): ENSG00000215305
OMIM: 608550, Gene2Phenotype
VPS16 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Both isolated and complex dystonia reported in association with variants in this gene.
Sources: Expert Review
Created: 29 Apr 2021, 10:09 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Dystonia 30, MIM#619291

Publications

Created: 29 Apr 2021, 10:09 a.m.

Panel version: 1.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Dystonia 30, MIM#619291
OMIM
608550
Clinvar variants
Variants in VPS16
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 May 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: VPS16 were changed from Dystonia to Dystonia 30, MIM#619291

29 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: vps16 has been classified as Green List (High Evidence).

29 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: vps16 has been classified as Green List (High Evidence).

29 Apr 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: VPS16 was added gene: VPS16 was added to Dystonia - isolated/combined. Sources: Expert Review Mode of inheritance for gene: VPS16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: VPS16 were set to 33482438; 33497487 Phenotypes for gene: VPS16 were set to Dystonia Review for gene: VPS16 was set to GREEN