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| Mendeliome v1.4538 | WAPL | Zornitza Stark Marked gene: WAPL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4538 | WAPL | Zornitza Stark Gene: wapl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4538 | WAPL | Zornitza Stark Classified gene: WAPL as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4538 | WAPL | Zornitza Stark Gene: wapl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4537 | WAPL |
Zornitza Stark gene: WAPL was added gene: WAPL was added to Mendeliome. Sources: Literature preprint tags were added to gene: WAPL. Mode of inheritance for gene: WAPL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: WAPL were set to 10.64898/2026.02.23.26346364; 30158690 Phenotypes for gene: WAPL were set to complex neurodevelopmental disorder, MONDO:0100038 Review for gene: WAPL was set to GREEN Added comment: PMID 30158690 reports a single de novo missense WAPL variant in a patient with mild CdLS‑like cohesinopathy, while a preprint (Boone et al 2026) describes 27 unrelated individuals with heterozygous loss‑of‑function or damaging missense WAPL variants presenting with a neurodevelopmental syndrome (developmental delay/intellectual disability, facial dysmorphism, congenital anomalies such as clubfoot). Combined, the two studies provide 28 unrelated families supporting WAPL haploinsufficiency as a cause of a complex neurodevelopmental disorder, with mouse and iPSC functional data corroborating pathogenicity. Sources: Literature |
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