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Undiagnosed metabolic disorders

Gene: WDR45

Green List (high evidence)

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

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
  • Literature
Phenotypes
  • Neurodegeneration with brain iron accumulation 5 300894
OMIM
300526
Clinvar variants
Variants in WDR45
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

14 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

14 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

14 Mar 2017, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for WDR45 were set to Neurodegeneration with brain iron accumulation 5 300894

27 Feb 2017, Gel status: 2

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Construction of “Undiagnosed Metabolic Disorders” (UDM) panel • The 614 genes from the neurometabolic gene panel (PMID: 27604308) added • Green genes downloaded from V1 metabolic panels (Cerebral folate deficiency, Congenital disorders of glycosylation, Hyperammonaemia, Ketotic hypoglycaemia, Mitochondrial disorders, Mucopolysaccharideosis, Gaucher, Fabry, Peroxisomal disorders), sources replaced with "Expert review green", then loaded as a review onto UDM panel, resulting in 367 green genes and 333 red (therefore 86 new green genes included from the additional metabolic panels that weren't previously on the UDM panel) • Downloaded green genes from all panels. Removed genes from none V1 panels. Removed genes from the metabolic panels mentioned above. Compared the remaining genes with the red genes from UDM panel. Loaded as an "Expert review Amber" review to the overlapping genes, (the panel name where the genes came from was used as the phenotype) • Used variant information from PMID 27604308 to review the genes on this panel • Reviewed genes on UDM panel with genes from Emory "Inherited Metabolic Disorders: Sequencing Panel" and UKGTN “Inborn Errors of Metabolism 226 panel”, changing status where appropriate, added 14 UKGTN genes that had not be listed before • Review 10 red genes that had not previously been reviewed, 4/10 were reclassified as green • Review the remaining 145 red genes that had not previously been reviewed (shared between reviewers EM, RF, LD, AT, HB, ON & SL), resulting in 60 green, 11 amber, 70 red, 4 I don’t know reviews) • Reviewed genes from PMID: 24816252 as a publication to genes found in the Inborn error or metabolism Genes metabolomics GWAS paper (figure 5). 2 new genes added

6 Jan 2017, Gel status: 2

Set Mode of Inheritance, Added New Source

Sarah Leigh (Genomics England Curator)

WDR45 was added to Undiagnosed metabolic disorderspanel. Source: Expert Review Amber Model 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)

28 Oct 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

WDR45 was added to Undiagnosed metabolic disorderspanel. Sources: Literature

28 Oct 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

WDR45 was created by sleigh