Structural basal ganglia disorders
Gene: WDR45

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

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed G2P. At least 5 variants reported.
Created: 14 Mar 2017, 5:22 p.m.

Created: 14 Mar 2017, 5:22 p.m.

Panel version: 0.193

Manju Kurian (UCL-Institute of Child Health)

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)

Created: 1 Mar 2017, 3:30 p.m.

Panel version: 0.6

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

Phenotypes

Neurodegeneration with brain iron accumulation 5 300894

OMIM

300526

Clinvar variants

Variants in WDR45

Penetrance

Complete

Publications

Panels with this gene