Complex Parkinsonism (includes pallido-pyramidal syndromes)

Gene: WDR45

Green List (high evidence)

WDR45 (WD repeat domain 45)
EnsemblGeneIds (GRCh38): ENSG00000196998
EnsemblGeneIds (GRCh37): ENSG00000196998
OMIM: 300526, Gene2Phenotype
WDR45 is in 13 panels

1 review

Ellen McDonagh (Genomics England Curator)

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, 11:57 a.m.

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
Phenotypes
  • Dystonia
  • beta-propeller protein-associated neurodegeneration
OMIM
300526
Clinvar variants
Variants in WDR45
Penetrance
Complete
Panels with this gene

History Filter Activity

10 Jun 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for WDR45 were set to Dystonia; beta-propeller protein-associated neurodegeneration

10 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

WDR45 was added to Complex Parkinsonism (includes pallido-pyramidal syndromes)panel. Sources: Expert