Parkinson Disease and Complex Parkinsonism
Gene: WDR45
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
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.
19th Dec 2016: panel revised according to expert review and further curation.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
WDR45 was added to Parkinson Disease and Complex Parkinsonismpanel. Source: Expert
WDR45 was added to Parkinson Disease and Complex Parkinsonismpanel. Sources: Expert list
WDR45 was created by ellenmcdonagh