Parkinson Disease and Complex Parkinsonism
Gene: PINK1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
juvenile onset parkinson disease
Comment on list classification: Mutliple case/family reports in OMIM (>3) with Parkinson disease 6, early onset, and different variants reported. Heterozygous variants may increase risk of late-onset parkinson's disease.Created: 2 Nov 2016, 1:42 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, 10:27 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 PINK1 were set to Parkinson disease 6, early onset, 605909; Parkinson Disease 6, Autosomal Recessive Early-Onset
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
PINK1 was added to Parkinson Disease and Complex Parkinsonismpanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert,Illumina TruGenome Clinical Sequencing Services,Eligibility statement prior genetic testing
PINK1 was created by ellenmcdonagh