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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

3 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Sarah Graham (West Midlands Regional Genetics Laboratory, Birmingham Women's and Children’s NHS Foundation Trust)

Green List (high evidence)

Biallelic missense variants with putative loss of function effect reported in fetuses from two families with multi-system abnormalities. Supportive mouse model. PMID 18179883: Homozygous c.341C>T p.(Ala114Val) in 4 fetuses from one consanguineous family with variable features including female to male sex reversal, renal, adrenal, and lung dysgenesis, cleft lip/palate, heart defects, diaphragmatic hernia. Heterozygous in parents and unaffected siblings. Functional studies support pathogenicity.PMID 40992710: Homozygous c.872C>G p.(Thr291Arg) in a fetus with congenital diaphragmatic hernia and child with orofacial clefting in a consanguineous family. A subset of Wnt4 null mouse embryos found to have perimembranous VSDs, anterior and posterior sac congenital diaphragmatic hernia, small/absent kidneys, and soft palate clefts.Additionally, heterozygous variants with dominant negative effect are associated with Mullerian aplasia and hyperandrogenism syndrome.Green on DDG2P panel for both biallelic and monoallelic modes of inheritance. Suggest for DSD panel.
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
SERKAL syndrome, OMIM:611812

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

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

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SERKAL syndrome, OMIM:611812
  • MULLERIAN APLASIA AND HYPERANDROGENISM
  • SERKAL SYNDROME
Tags
Q3_26_promote_green
OMIM
603490
Clinvar variants
Variants in WNT4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Nov 2026, Gel status: 2

Added Tag

Ida Ertmanska (Genomics England Curator)

Tag Q3_26_promote_green tag was added to gene: WNT4.

29 Oct 2026, Gel status: 2

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

Ida Ertmanska (Genomics England Curator)

Source NHS GMS was added to WNT4. Mode of inheritance for gene WNT4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Added phenotypes SERKAL syndrome, OMIM:611812 for gene: WNT4 Publications for gene: WNT4 were updated from to 40992710; 18179883

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