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| Intestinal failure or congenital diarrhoea v1.48 | STXBP2 | Eleanor Williams commented on gene: STXBP2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v1.24 | STXBP2 | Ivone Leong Phenotypes for gene: STXBP2 were changed from Hemophagocytic lymphohistiocytosis, familial, 5 613101 to Hemophagocytic lymphohistiocytosis, familial, 5, OMIM:613101 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v0.16 | STXBP2 | Ivone Leong Marked gene: STXBP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v0.16 | STXBP2 | Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v0.16 | STXBP2 | Ivone Leong Gene: stxbp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v0.10 | STXBP2 |
Ivone Leong Source Other was added to STXBP2. Mode of inheritance for gene STXBP2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Hemophagocytic lymphohistiocytosis, familial, 5 613101 for gene: STXBP2 Publications for gene STXBP2 were changed from to 20798128; 19804848 |
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| Intestinal failure or congenital diarrhoea v0.4 | STXBP2 |
Ivone Leong Source Expert Review Green was added to STXBP2. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Intestinal failure or congenital diarrhoea v0.3 | STXBP2 | Ivone Leong reviewed gene: STXBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v0.2 | STXBP2 |
Ivone Leong gene: STXBP2 was added gene: STXBP2 was added to Intestinal failure. Sources: NHS GMS Mode of inheritance for gene: STXBP2 was set to |
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