Likely inborn error of metabolism
Gene: WDR45

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

1 review

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, 5:20 p.m.

Comment on phenotypes: Early onset dystonia; Epileptic encephalopathy; Intellectual disability; Parkinson Disease and Complex Parkinsonism
Created: 14 Mar 2017, 5:19 p.m.

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
Parkinson Disease and Complex Parkinsonism

Created: 6 Jan 2017, 2:04 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.15

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

London North GLH
NHS GMS
Expert Review Green

Phenotypes

Neurodegeneration with brain iron accumulation 5

OMIM

300526

Clinvar variants

Variants in WDR45

Penetrance

None

Publications

27604308

Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to WDR45. Source London North GLH was added to WDR45.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: WDR45 was added gene: WDR45 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: WDR45 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: WDR45 were set to 27604308 Phenotypes for gene: WDR45 were set to Neurodegeneration with brain iron accumulation 5

Likely inborn error of metabolism Gene: WDR45