This Panel is marked as Internal
Complex Parkinsonism (includes pallido-pyramidal syndromes)
Gene: WDR45
WDR45 (WD repeat domain 45)
EnsemblGeneIds (GRCh38): ENSG00000196998
EnsemblGeneIds (GRCh37): ENSG00000196998
OMIM: 300526, Gene2Phenotype
WDR45 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000196998
EnsemblGeneIds (GRCh37): ENSG00000196998
OMIM: 300526, Gene2Phenotype
WDR45 is in 12 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
-
- Early onset or syndromic epilepsy
- Structural basal ganglia disorders
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Early onset dystonia
- Likely inborn error of metabolism
- Adult onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- DDG2P
- Parkinson Disease and Complex Parkinsonism
- Fetal anomalies
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