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| Mendeliome v1.4202 | SKAP2 | Zornitza Stark Marked gene: SKAP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4202 | SKAP2 | Zornitza Stark Gene: skap2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4202 | SKAP2 |
Zornitza Stark gene: SKAP2 was added gene: SKAP2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: SKAP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SKAP2 were set to 40771593; 34172489 Phenotypes for gene: SKAP2 were set to Inborn error of immunity, MONDO:0003778 Review for gene: SKAP2 was set to RED Added comment: PMID 34172489 reports a de novo heterozygous SKAP2 missense variant (c.457G>A, p.Gly153Arg) in a child with childhood‑onset type 1 diabetes and multiple autoimmune disorders; functional studies in THP‑1 macrophages, patient‑derived macrophages and neutrophils show constitutive SKAP2 activation and hyper‑integrin signaling. The same variant was later described in PMID 40771593. Sources: Literature |
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