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| Skeletal dysplasia v1.96 | VPS16 | chirag patel Classified gene: VPS16 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.96 | VPS16 | chirag patel Gene: vps16 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.95 | VPS16 | chirag patel Marked gene: VPS16 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.95 | VPS16 | chirag patel Gene: vps16 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.95 | VPS16 |
chirag patel gene: VPS16 was added gene: VPS16 was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: VPS16 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS16 were set to 34013567; 33938619 Phenotypes for gene: VPS16 were set to Mucopolysaccharidosis or mucopolysaccharidosis-like disorder, MONDO:0100365 Review for gene: VPS16 was set to GREEN Added comment: PMID 34013567 reports a consanguineous Turkish‑Arab family with two siblings homozygous for a missense VPS16 p.Trp180Cys variant presenting with a mucopolysaccharidosis‑like multisystem disorder that includes short stature, coarse facies, spondylar dysplasia and severe neutropenia. PMID 33938619 identifies two unrelated families harbouring a homozygous intronic splice‑site c.2272-18C>A variant that causes a similar early‑onset mucopolysaccharidosis‑like disease with dysostosis multiplex, neurodevelopmental regression and hematological abnormalities. Functional studies show ~85 % loss of VPS16 protein in patient fibroblasts rescued by wild‑type VPS16 expression and a vps16‑deficient zebrafish recapitulating the neuro‑developmental and lysosomal phenotypes. Sources: Literature |
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