Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
Gene: WLSEnsemblGeneIds (GRCh38): ENSG00000116729
EnsemblGeneIds (GRCh37): ENSG00000116729
OMIM: 611514, Gene2Phenotype
WLS is in 6 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Zaki syndrome, MIM#619648
Teresa Zhao (Victorian Clinical Genetics Services)
- Homozygous mutations in 10 affected persons from 5 unrelated families.
- Patients had multiorgan defects, including microcephal, facial dysmorphism, foot syndactyly, renal agenesis, alopecia, iris coloboma, and heart defects.
- The mutations affected WLS protein stability and Wnt signaling. Knock-in mice showed tissue and cell vulnerability consistent with Wnt-signaling intensity and individual and collective functions of Wnts in embryogenesis.
Sources: LiteratureCreated: 4 Oct 2021, 4:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Syndromic structural birth defects
Publications
- PMID: 34587386
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Zaki syndrome, MIM#619648
- OMIM
- 611514
- Clinvar variants
- Variants in WLS
- Penetrance
- None
- Publications
-
- PMID: 34587386
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: WLS were changed from Syndromic structural birth defects to Zaki syndrome, MIM#619648
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: wls has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: wls has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Teresa Zhao (Victorian Clinical Genetics Services)gene: WLS was added gene: WLS was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature Mode of inheritance for gene: WLS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WLS were set to PMID: 34587386 Phenotypes for gene: WLS were set to Syndromic structural birth defects Review for gene: WLS was set to GREEN