Differences of Sex Development
Gene: WNT4

WNT4 (Wnt family member 4)
EnsemblGeneIds (GRCh38): ENSG00000162552
EnsemblGeneIds (GRCh37): ENSG00000162552
OMIM: 603490, Gene2Phenotype
WNT4 is in 5 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

Limited evidence supporting gene disease association.

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: 1 females reported with the associated phenotype including excess androgen. (Variant not found in gnomad)

Not include in DSD or HHI panels (PanelApp UK)
Created: 8 Jul 2020, 6:15 a.m. | Last Modified: 8 Jul 2020, 6:15 a.m.

Panel Version: 0.34

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Mullerian aplasia and hyperandrogenism (MIM#158330)

Publications

Created: 8 Jul 2020, 6:15 a.m.
Last Modified: 8 Jul 2020, 6:15 a.m.
Panel version: 0.34

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber
Victorian Clinical Genetics Services

Phenotypes

Mullerian aplasia and hyperandrogenism (MIM#158330)

OMIM

603490

Clinvar variants

Variants in WNT4

Penetrance

None

Publications

Panels with this gene