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| Mendeliome v2.411 | STXBP2 | Zornitza Stark Publications for gene: STXBP2 were set to 19804848 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.410 | STXBP2 | Zornitza Stark edited their review of gene: STXBP2: Added comment: PMID 25564401: four unrelated families (P1‑P4) harbouring heterozygous (monoallelic) or biallelic STXBP2 miss‑sense variants at codon 65 (R65Q or R65W) that cause familial haemophagocytic lymphohistiocytosis (F‑HLH). Functional assays (patient CTL/NK cytotoxicity, degranulation, forced expression in control cells, liposome‑fusion assays) demonstrate that the R65Q/W mutants act in a dominant‑negative manner to inhibit SNARE‑complex assembly and membrane fusion. Two families carry heterozygous variants (monoallelic disease) and two families carry biallelic variants (homozygous R65Q or compound‑heterozygous R65Q + G541S). Insufficient evidence for monoallelic MOI except for variants at this specific codon.; Changed publications: 19804848, 25564401, 32542393 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.0 | STXBP2 | Gene migrated from ENSG00000076944 to ENSG00000076944 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11811 | STXBP2 | Zornitza Stark Marked gene: STXBP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11811 | STXBP2 | Zornitza Stark Gene: stxbp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11811 | STXBP2 | Zornitza Stark Phenotypes for gene: STXBP2 were changed from to Haemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease 613101 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11810 | STXBP2 | Zornitza Stark Publications for gene: STXBP2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11809 | STXBP2 | Zornitza Stark Mode of inheritance for gene: STXBP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11808 | STXBP2 | Zornitza Stark reviewed gene: STXBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19804848; Phenotypes: Haemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease 613101; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | STXBP2 |
Zornitza Stark gene: STXBP2 was added gene: STXBP2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: STXBP2 was set to Unknown |
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