Parkinson Disease and Complex Parkinsonism
Gene: PRKNNew approved gene symbol is PRKNCreated: 24 Mar 2017, 11:30 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
juvenile onset parkinson disease
Comment on list classification: Expert review green, multiple cases reported in OMIM with different variants.Created: 2 Nov 2016, 1:34 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, 10:22 a.m.
Accounts for about 8% of early onset PD patients; can involve single or multi-exon deletions; nsSNPs considered pathogenic are collated at http://www.molgen.vib-ua.be/PDMutDB/Created: 3 Jun 2016, 10:24 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Parkinson's disease; PD; Parkinsonism-dystonia; Autosomal recessive juvenile parkinsonism
Publications
PARK2 was changed to PRKN
new-gene-name was removed from PARK2. Panel: Parkinson Disease and Complex Parkinsonism
19th Dec 2016: panel revised according to expert review and further curation.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
PARK2 was created by ellenmcdonagh
PARK2 was added to Parkinson Disease and Complex Parkinsonismpanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Expert,Eligibility statement prior genetic testing