| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital Diarrhoea v0.38 | STXBP2 | Zornitza Stark Marked gene: STXBP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Diarrhoea v0.38 | STXBP2 | Zornitza Stark Gene: stxbp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Diarrhoea v0.38 | STXBP2 | Zornitza Stark Classified gene: STXBP2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Diarrhoea v0.38 | STXBP2 | Zornitza Stark Gene: stxbp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Diarrhoea v0.37 | STXBP2 |
Zornitza Stark gene: STXBP2 was added gene: STXBP2 was added to Congenital Diarrhoea. Sources: Expert Review Mode of inheritance for gene: STXBP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STXBP2 were set to 23382066; 28724787; 29266534 Phenotypes for gene: STXBP2 were set to Hemophagocytic lymphohistiocytosis, familial, 5, MIM# 613101; Enteropathy Review for gene: STXBP2 was set to GREEN Added comment: Variants in STXBP2 do not only affect cytotoxic T lymphocytes (causing HLH) but also cause changes in the intestinal epithelium resulting in severe, osmotic diarrhoea. More than 10 individuals reported with severe enteropathy, resembling MVID. Sources: Expert Review |
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