Parkinson Disease and Complex Parkinsonism
Gene: SNCA
Please consider also whole gene duplications and triplicationsCreated: 29 Nov 2016, 4 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
parkinson disease; dementia with lewy body
Comment on mode of pathogenicity: A gene-dosage effect has been observed with disease-severity in some cases - triplication of the gene has been reported in families to segregate with parkinsonism (PMID: 14593171, 17251522), and gene duplication with with autosomal dominant Parkinson disease (15451225, 15451224). There are also missense mutations that have been reported.Created: 2 Nov 2016, 2:07 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, 10:29 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 SNCA were set to Parkinson disease 4, 605543; Dementia, Lewy body, 127750; Parkinson disease 1, 168601;Autosomal dominant Parkinson's disease with alpha-synuclein rearrangements (PARK1/4)
Mode of pathogenicity for SNCA was changed to Other - please provide details in the comments
This gene has been classified as Green List (High Evidence).
SNCA was added to Parkinson Disease and Complex Parkinsonismpanel. Sources: Radboud University Medical Center, Nijmegen,Expert,Illumina TruGenome Clinical Sequencing Services,UKGTN
SNCA was created by ellenmcdonagh