Familial Hirschsprung Disease
Gene: WNT3AEnsemblGeneIds (GRCh38): ENSG00000154342
EnsemblGeneIds (GRCh37): ENSG00000154342
OMIM: 606359, Gene2Phenotype
WNT3A is in 1 panel
2 reviews
Erwin Brosens (Erasmus MC)
Rebecca Foulger (Genomics England curator)
Comment when marking as ready: Marked WNT3A as ready: August 3rd 2017. Red review plus no direct evidence for role of WNT3A in Hirschsprung disease. Therefore remaining on the panel as red/research gene only.Created: 3 Aug 2017, 3:12 p.m.
PMID:24817932 suggest that WNT3A may be important in Hirschsprung disease, based on expression levels in the Chinese population and SNP association studies.Created: 5 Jun 2017, 1:57 p.m.
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Hirschsprung disease
- OMIM
- 606359
- Clinvar variants
- Variants in WNT3A
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Rebecca Foulger (Genomics England curator)18th October 2017: Revised and approved to Version 1.0 after expert and curator review. An expert list from Mr. Simon Kenny and Professor Robert Hofstra's groups (Alder Hey - Erasmus MC) formed the basis of the original panel. The expert list was then expanded based on a review of literature. Many of the literature genes remain red on the V1.0 panel as they were identified through association studies and/or they represent susceptibility/risk factors for Hirschsprung's disease (HSCR). Sumita Chhabra (Alder Hey) and Erwin Brosens (Erasmus) provided extensive feedback for genes on the panel, together with reviews from Merce Garcia-Barcelo.
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for WNT3A was changed to Unknown
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Rebecca Foulger (Genomics England curator)WNT3A was added to Familial Hirschsprung Diseasepanel. Sources: Literature
Created
Rebecca Foulger (Genomics England curator)WNT3A was created by rfoulger