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  3. WNT4
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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 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Conflicting evidence for association of mono-allelic variants with DSD:

PMID: 22503279: Screened WNT4 for mutation in 189 Chinese women with Mullerian duct abnormalities and no causative variants identified. WNT4 concluded as not causative for the phenotype.

PMID: 21377155: Reported 4 girls with Mullerian Duct Abnormality and Hyperandrogenism, and identified one variant in one proband. No cauative variants identified in the other 3. The single variant identified is present in gnomAD, 24 hets.

PMID: 16959810, 15317892 and 18182450: report one female each. Segregation analysis not performed.

Single family only reported with bi-allelic variants and SERKAL syndrome.
Created: 6 Dec 2021, 6:36 a.m. | Last Modified: 6 Dec 2021, 6:36 a.m.
Panel Version: 0.1042

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mullerian aplasia and hyperandrogenism (MIM#158330); SERKAL syndrome, OMIM #611812

Publications

Created: 6 Dec 2021, 6:36 a.m.
Last Modified: 6 Dec 2021, 6:36 a.m.
Panel version: 0.1042

Chloe Stutterd (Victorian Clinical Genetics Services)

Green List (high evidence)

Müllerian duct anomalies and renal agenesis reported in multiple unrelated individuals and animal model.
Created: 5 Dec 2021, 7:55 p.m. | Last Modified: 5 Dec 2021, 7:55 p.m.
Panel Version: 0.935

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
158330

Publications

Created: 5 Dec 2021, 7:55 p.m.
Last Modified: 5 Dec 2021, 7:55 p.m.
Panel version: 0.935

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • Mullerian aplasia and hyperandrogenism (MIM#158330)
  • SERKAL syndrome, OMIM #611812
OMIM
603490
Clinvar variants
Variants in WNT4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Dec 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: wnt4 has been classified as Amber List (Moderate Evidence).

6 Dec 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: WNT4 were changed from MULLERIAN APLASIA AND HYPERANDROGENISM; SERKAL SYNDROME to Mullerian aplasia and hyperandrogenism (MIM#158330); SERKAL syndrome, OMIM #611812

6 Dec 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: WNT4 were set to

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: WNT4 was added gene: WNT4 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: WNT4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: WNT4 were set to MULLERIAN APLASIA AND HYPERANDROGENISM; SERKAL SYNDROME