Parkinson Disease and Complex Parkinsonism
Gene: VPS35
Monoallelic mutations cause late onset pd. Overall,VPS35 mutations are a rare cause of PD accounting for onlyabout 1 percent of familial parkinsonism (PMID: 23408866)Created: 14 Dec 2016, 5:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
late onset parkinson disease
Publications
Although there's only one VPS35 variant reported (D620N), it is seen across cases according to OMIM (PMID:21763482, PMID:22991136 Japanese population, PMID:21763483, PMID: 22517097 French population). More recent papers also highlight studies that DIDN'T find this VPS35 mutation (PMID:27777137 Brazilian population, PMID: 24854799 Italian population, 26547032 Hungarian population).Created: 10 Nov 2016, 11:04 a.m.
Comment on list classification: Confirmed with Arianna this hsould be green, for late-onset PD.Created: 8 Dec 2016, 3:38 p.m.
Comment on list classification: Only one variant reported in OMIM - D620N, :rs188286943, which has been reported in multiple families from different ethnicities. Need to carry out literature search.Created: 2 Nov 2016, 5:06 p.m.
Comment on list classification: Is on the Parkinson's Disease NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.Created: 10 Jun 2016, 10:31 a.m.
19th Dec 2016: panel revised according to expert review and further curation.
This gene has been classified as Green List (High Evidence).
Phenotypes for VPS35 were set to Parkinson disease 17, 614203; Parkinson Disease, Dominant; PARKINSON DISEASE 17; PARK17;late onset parkinson disease
Publications for VPS35 were set to 21763482; 22991136; 21763483; 22517097; 27777137; 24854799; 26547032;23408866
This gene has been classified as Green List (High Evidence).
Publications for VPS35 were set to 21763482;22991136;21763483;22517097;27777137;24854799;26547032
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Green List (High Evidence).
VPS35 was added to Parkinson Disease and Complex Parkinsonismpanel. Sources: Radboud University Medical Center, Nijmegen,Expert,Illumina TruGenome Clinical Sequencing Services,UKGTN
VPS35 was created by ellenmcdonagh