| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mendeliome v1.4260 | VPS18 | Bryony Thompson Marked gene: VPS18 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4260 | VPS18 | Bryony Thompson Gene: vps18 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4260 | VPS18 |
Bryony Thompson gene: VPS18 was added gene: VPS18 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: VPS18 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: VPS18 were set to 41526335 Phenotypes for gene: VPS18 were set to Inborn error of immunity, MONDO:0003778 Review for gene: VPS18 was set to RED Added comment: PMID 41526335 reports a single individual from one unrelated family with a heterozygous loss‑of‑function stop‑gain VPS18 variant (c.700C>T, p.Arg234Ter) presenting with congenital neutropenia, maturation arrest of neutrophils and recurrent infections. Human iPSC knock‑in, zebrafish and mouse models recapitulate the neutrophil deficiency, supporting a haploinsufficiency mechanism with dominant inheritance and incomplete penetrance. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||