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DDG2P

Gene: WNT4

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for WNT4-related SERKAL syndrome are strong, biallelic_autosomal and undetermined (PMID:18179883). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00183. The DDG2P confidence category, allelic requirement and molecular mechanism for WNT4-related mullerian aplasia and hyperandrogenism are strong, monoallelic_autosomal and undetermined (PMID:15317892). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01570.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease MULLERIAN APLASIA AND HYPERANDROGENISM, OMIM:158330 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:15317892). The DDG2P confidence category for the disease SERKAL SYNDROME, OMIM:611812 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID:18179883).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
SERKAL SYNDROME, OMIM:611812; MONDO:0012734; WNT4-related mullerian aplasia and hyperandrogenism; MONDO:0008019; OMIM:611812.0; MULLERIAN APLASIA AND HYPERANDROGENISM, OMIM:158330; OMIM:158330.0; WNT4-related SERKAL syndrome

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: probable (for all listed disorders). DDG2P mode of pathogenicity for both disorders: all missense/in frame. Multiple MOIs in DD-G2P download: monoallelic and biallelic.
Created: 19 Nov 2018, 11:31 a.m.
Created: 19 Nov 2018, 11:31 a.m.

Panel version: 0.2

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • MULLERIAN APLASIA AND HYPERANDROGENISM 158330
  • SERKAL SYNDROME 611812
OMIM
603490
Clinvar variants
Variants in WNT4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: WNT4 was changed from Other to None

4 Oct 2023, Gel status: 3

Added New Source, Set mode of pathogenicity, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to WNT4. Mode of pathogenicity for gene WNT4 was changed from Other - please provide details in the comments to Other Publications for gene: WNT4 were updated from 15317892 to 18179883; 15317892 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: probabl

19 Nov 2018, Gel status: 2

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes MULLERIAN APLASIA AND HYPERANDROGENISM 158330 for gene: WNT4 Publications for gene WNT4 were changed from 18179883 to 15317892

19 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: WNT4 was added gene: WNT4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: WNT4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: WNT4 were set to 18179883 Phenotypes for gene: WNT4 were set to SERKAL SYNDROME 611812 Mode of pathogenicity for gene: WNT4 was set to Other - please provide details in the comments