| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mendeliome v1.4087 | AP1M2 | Zornitza Stark Marked gene: AP1M2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4087 | AP1M2 | Zornitza Stark Gene: ap1m2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4087 | AP1M2 |
Zornitza Stark gene: AP1M2 was added gene: AP1M2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: AP1M2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP1M2 were set to 41451456 Phenotypes for gene: AP1M2 were set to Inborn error of immunity, MONDO:0003778 Review for gene: AP1M2 was set to RED Added comment: PMID 41451456 reports a single individual with biallelic splice‑site loss‑of‑function variant presenting with early‑onset autoinflammatory disease with severe colitis, failure‑to‑thrive, and perianal fistula. Functional studies demonstrate exon 10 skipping, loss of μ‑subunit interaction with TGN38, NF‑κB hyperactivation, and colitis in Ap1m2‑deficient mice that is rescued by TNFR1 knockout. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||