Parkinson Disease and Complex Parkinsonism

Gene: VPS35

Green List (high evidence)

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

• 23408866

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.