Adult onset dystonia, chorea or related movement disorder
Gene: VPS35EnsemblGeneIds (GRCh38): ENSG00000069329
EnsemblGeneIds (GRCh37): ENSG00000069329
OMIM: 601501, Gene2Phenotype
VPS35 is in 4 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 1:19 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- London North GLH
- Expert Review Green
- Phenotypes
-
- Parkinson disease 17, OMIM:614203
- OMIM
- 601501
- Clinvar variants
- Variants in VPS35
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: VPS35 were set to 23408866; 21763483; 21763482; 26547032; 22991136; 27777137; 22517097; 24854799; 35766879
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: VPS35 were set to 23408866; 21763483; 21763482; 26547032; 22991136; 27777137; 22517097; 24854799
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: VPS35 were changed from PARK17; PARKINSON DISEASE 17; Parkinson disease 17, 614203; Parkinson Disease, Dominant; late onset parkinson disease to Parkinson disease 17, OMIM:614203
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to VPS35.
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to VPS35.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: VPS35 was added gene: VPS35 was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: VPS35 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: VPS35 were set to 23408866; 21763483; 21763482; 26547032; 22991136; 27777137; 22517097; 24854799 Phenotypes for gene: VPS35 were set to PARK17; PARKINSON DISEASE 17; Parkinson disease 17, 614203; Parkinson Disease, Dominant; late onset parkinson disease