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Fetal anomalies

Gene: WNT4

Amber List (moderate evidence)

WNT4 (Wnt family member 4)
EnsemblGeneIds (GRCh38): ENSG00000162552
EnsemblGeneIds (GRCh37): ENSG00000162552
OMIM: 603490, Gene2Phenotype
WNT4 is in 3 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for SERKAL SYNDROME and Probable for MULLERIAN APLASIA AND HYPERANDROGENISM.
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOP listed as All missense/in frame for both disorders.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SERKAL SYNDROME
  • MULLERIAN APLASIA AND HYPERANDROGENISM
OMIM
603490
Clinvar variants
Variants in WNT4
Penetrance
None
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes MULLERIAN APLASIA AND HYPERANDROGENISM for gene: WNT4

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: WNT4 was added gene: WNT4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: WNT4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: WNT4 were set to SERKAL SYNDROME