| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Skeletal dysplasia v1.24 | WLS | chirag patel Marked gene: WLS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.24 | WLS | chirag patel Gene: wls has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.24 | WLS |
chirag patel gene: WLS was added gene: WLS was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: WLS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WLS were set to 40618129; 34587386 Phenotypes for gene: WLS were set to Zaki syndrome, MONDO:0859209 Review for gene: WLS was set to GREEN Added comment: PMID 34587386 reports 10 individuals from five families (three independent families with qualifying homozygous WLS missense variants) and PMID 40618129 reports 1 individual from a further independent family with compound heterozygous WLS variants, together defining Zaki syndrome – a multisystem congenital disorder featuring microcephaly, facial dysmorphism, foot syndactyly, renal agenesis/hydronephrosis, cardiac defects, short stature and developmental delay. Functional studies including protein loss, impaired Wnt secretion, knock‑in mouse models and rescue with the Wnt agonist CHIR99021 support a loss‑of‑function mechanism. Skeletal anomalies included toe syndactyly, ectrodactyly, broad distal phalanges, long fingers, and hypoplasia of toe phalanges and toenails. Sources: Literature |
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