Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Fetal anomalies v0.1108 WLS Zornitza Stark Marked gene: WLS as ready
Fetal anomalies v0.1108 WLS Zornitza Stark Gene: wls has been classified as Green List (High Evidence).
Fetal anomalies v0.1108 WLS Zornitza Stark Classified gene: WLS as Green List (high evidence)
Fetal anomalies v0.1108 WLS Zornitza Stark Gene: wls has been classified as Green List (High Evidence).
Fetal anomalies v0.1107 WLS Zornitza Stark gene: WLS was added
gene: WLS was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: WLS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WLS were set to 34587386
Phenotypes for gene: WLS were set to Zaki syndrome, MIM#619648
Review for gene: WLS was set to GREEN
Added comment: - Homozygous mutations in 10 affected persons from 5 unrelated families.
- Patients had multiorgan defects, including microcephaly, 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: Literature