| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Inherited bleeding disorders v1.150 | SLC35A1 | Rebecca Foulger commented on gene: SLC35A1: Added watchlist tag. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited bleeding disorders v1.150 | SLC35A1 | Rebecca Foulger Tag watchlist tag was added to gene: SLC35A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited bleeding disorders v1.150 | SLC35A1 | Rebecca Foulger Classified gene: SLC35A1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited bleeding disorders v1.150 | SLC35A1 | Rebecca Foulger Gene: slc35a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited bleeding disorders v1.149 | SLC35A1 |
Rebecca Foulger gene: SLC35A1 was added gene: SLC35A1 was added to Inherited bleeding disorders. Sources: Literature Mode of inheritance for gene: SLC35A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC35A1 were set to 15576474; 30115659 Phenotypes for gene: SLC35A1 were set to Congenital disorder of glycosylation, type IIf, 603585; severe thrombocytopenia; hemorrhages; macrothrombocytopenia Review for gene: SLC35A1 was set to AMBER Added comment: Added SLC35A1 to the 'Inherited bleeding disorders' panel with Amber rating as suggested by Helen Brittain, based on pattern of bleeding anomalies and macrothrombocytopaenia reported in PMID:15576474 (Martinez-Duncker, 2005. Note a 'leaky' polymorphism) and PMID:30115659 (Kauskot et al. 2018). More cases required for a diagnostic rating. Sources: Literature |
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