Early onset and familial Parkinson's Disease
Gene: PRKNNew approved gene symbol is PRKNCreated: 24 Mar 2017, 11:30 a.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: Early onset and familial Parkinson's Disease
This gene has been classified as Green List (High Evidence).
Publications for PARK2 were set to PMID: 22956510
This gene has been classified as Green List (High Evidence).
PARK2 was added to Early onset and familial Parkinson's Diseasepanel. Sources: Eligibility statement prior genetic testing
Model of inheritance for gene PARK2 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene PARK2 was changed to BIALLELIC, autosomal or pseudoautosomal
PARK2 was added to Early onset and familial Parkinson's Diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Expert
Model of inheritance for gene PARK2 was changed to BIALLELIC, autosomal or pseudoautosomal
PARK2 was added to Early onset and familial Parkinson's Diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Expert
PARK2 was added to Early onset and familial Parkinson's Diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Expert