Parkinson Disease and Complex Parkinsonism
Gene: PARK7
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
juvenile onset parkinson disease
Comment on list classification: More than 3 cases/family reports in OMIM from different ethnicities, and different variants reported. One report showing compound het with a variant in the PINK1 gene.Created: 2 Nov 2016, 1:37 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, 10:26 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 PARK7 were set to Parkinson disease 7 autosomal recessive early-onset;606324
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
PARK7 was added to Parkinson Disease and Complex Parkinsonismpanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert,Illumina TruGenome Clinical Sequencing Services
PARK7 was created by ellenmcdonagh