Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Gene: WNT4EnsemblGeneIds (GRCh38): ENSG00000162552
EnsemblGeneIds (GRCh37): ENSG00000162552
OMIM: 603490, Gene2Phenotype
WNT4 is in 5 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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, 6:38 a.m. | Last Modified: 6 Dec 2021, 6:38 a.m.
Panel Version: 0.10126
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Mullerian aplasia and hyperandrogenism (MIM#158330); SERKAL syndrome, OMIM #611812
Publications
Chirag Patel (Genetic Health Queensland)
1 family with 3 affected fetuses with renal anomalies, and homozygous A114V mutation. The mutation resulted in markedly reduced WNT4 mRNA levels in vivo and in vitro and downregulated WNT4-dependent inhibition of beta-catenin degradation.Created: 16 Jan 2020, 5:01 a.m. | Last Modified: 16 Jan 2020, 5:01 a.m.
Panel Version: 0.37
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?SERKAL syndrome; OMIM #611812
Publications
- PubMed: 18179883
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert Review Red
- Victorian Clinical Genetics Services
- Victorian Clinical Genetics Services
- Phenotypes
-
- SERKAL syndrome
- OMIM #611812
- OMIM
- 603490
- Clinvar variants
- Variants in WNT4
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: WNT4 were changed from SERKAL syndrome; OMIM #611812 to SERKAL syndrome; OMIM #611812
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: wnt4 has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: WNT4 were changed from to SERKAL syndrome; OMIM #611812
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: WNT4 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: WNT4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: wnt4 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: WNT4 was added gene: WNT4 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: WNT4 was set to Unknown