Parkinson Disease and Complex Parkinsonism
Gene: PARK7

PARK7 (Parkinsonism associated deglycase)
EnsemblGeneIds (GRCh38): ENSG00000116288
EnsemblGeneIds (GRCh37): ENSG00000116288
OMIM: 602533, Gene2Phenotype
PARK7 is in 6 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, 3:39 p.m.

Panel version: 0.137

Ellen McDonagh (Genomics England Curator)

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.

Created: 10 Jun 2016, 10:26 a.m.

Panel version: Imported from "Early onset and familial Parkinson's Disease" panel version 0.9

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
UKGTN
Radboud University Medical Center, Nijmegen
Expert
Illumina TruGenome Clinical Sequencing Services

Phenotypes

Parkinson disease 7 autosomal recessive early-onset
606324

OMIM

602533

Clinvar variants

Variants in PARK7

Penetrance

Complete

Panels with this gene