Severe microcephaly
Gene: WLS
The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 10 Oct 2023, 2:56 p.m. | Last Modified: 10 Oct 2023, 2:56 p.m.
Panel Version: 4.33
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment on list classification: There are sufficient unrelated cases with different homozygous variants in this gene and a consistent phenotype to support a gene-disease association. Progressive microcephaly (head circumference, 2 to 5.9 SD below the mean) was seen in all affected patients for whom data were available. Therefore suggesting this gene is rated Green at the next GMS panel update.Created: 9 May 2023, 2:11 p.m. | Last Modified: 9 May 2023, 2:15 p.m.
Panel Version: 4.9
- Homozygous variants in 10 affected persons from 5 unrelated families.
- Affected individuals 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: LiteratureCreated: 11 Oct 2021, 7:28 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
structural congenital anomalies
Publications
Tag Q2_23_promote_green was removed from gene: WLS.
Source Expert Review Green was added to WLS. Source NHS GMS was added to WLS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
gene: WLS was added gene: WLS was added to Severe microcephaly. Sources: Literature,Expert Review Amber Q2_23_promote_green tags were added to gene: WLS. 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, OMIM:619648