Parkinson Disease and Complex Parkinsonism
Gene: PINK1

PINK1 (PTEN induced putative kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000158828
EnsemblGeneIds (GRCh37): ENSG00000158828
OMIM: 608309, Gene2Phenotype
PINK1 is in 8 panels

2 reviews

Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
juvenile onset parkinson disease

Created: 29 Nov 2016, 3:41 p.m.

Panel version: 0.137

Ellen McDonagh (Genomics England Curator)

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.

Created: 10 Jun 2016, 10:27 a.m.

Panel version: Imported from "Early onset and familial Parkinson's Disease" panel version 0.10

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Eligibility statement prior genetic testing
Illumina TruGenome Clinical Sequencing Services
Expert
UKGTN
Radboud University Medical Center, Nijmegen

Phenotypes

Parkinson disease 6, early onset, 605909
Parkinson Disease 6, Autosomal Recessive Early-Onset

OMIM

608309

Clinvar variants

Variants in PINK1

Penetrance

Complete

Panels with this gene