Structural eye disease
Gene: WLS
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 3:59 p.m. | Last Modified: 30 Jan 2023, 3:59 p.m.
Panel Version: 2.3
Chai et al. 2021: among five families with microcephaly and multiorgan defects two unrelated individuals had coloboma. Knockin mutant mice have similar abnormalities but eye phenotype was not mentioned. Carpenter et al. 2015 conditional knockout mouse have colobomaCreated: 20 Jan 2022, 11:38 a.m. | Last Modified: 20 Jan 2022, 11:38 a.m.
Panel Version: 1.101
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Comment on list classification: Promoted from Red to Amber. This gene is associated with a phenotype in OMIM but not Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.Created: 18 May 2022, 2:09 p.m. | Last Modified: 18 May 2022, 2:09 p.m.
Panel Version: 1.130
Sources: Expert listCreated: 20 Jan 2022, 11:24 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Zaki syndrome, OMIM:619648
Publications
Tag Q1_22_NHS_review was removed from gene: WLS. Tag Q2_22_rating 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 has been classified as Amber List (Moderate Evidence).
Tag Q2_22_rating tag was added to gene: WLS.
gene: WLS was added gene: WLS was added to Structural eye disease. Sources: Expert list Q1_22_NHS_review 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; 25715397 Phenotypes for gene: WLS were set to Zaki syndrome, OMIM:619648 Review for gene: WLS was set to AMBER