Parkinson Disease and Complex Parkinsonism
Gene: WDR45

WDR45 (WD repeat domain 45)
EnsemblGeneIds (GRCh38): ENSG00000196998
EnsemblGeneIds (GRCh37): ENSG00000196998
OMIM: 300526, Gene2Phenotype
WDR45 is in 12 panels

2 reviews

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

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
neurodegeneration with brain iron accumulation

Created: 29 Nov 2016, 4:34 p.m.

Panel version: 0.137

Ellen McDonagh (Genomics England Curator)

Comment on list classification: This is a confirmed DD gene for NEURODEGENERATION WITH BRAIN IRON ACCUMULATION (which includes parkinsonism as a phenotype) and more than 3 unrelated cases reported in OMIM, different variants reported.
Created: 2 Nov 2016, 5:08 p.m.

Comment on list classification: Is on the Complex Parkinson's Disease/Dystonia NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.
Created: 10 Jun 2016, 11:59 a.m.

Created: 10 Jun 2016, 11:59 a.m.

Panel version: Imported from "Early onset and familial Parkinson's Disease" panel version 0.50

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Sources

Expert Review Green
Expert
Expert list

Phenotypes

Dystonia
beta-propeller protein-associated neurodegeneration
beta-propeller protein-associated neurodegeneration

OMIM

300526

Clinvar variants

Variants in WDR45

Penetrance

Complete

Panels with this gene