Inherited bleeding disorders
Gene: SLC35A1
Added watchlist tag.Created: 18 Feb 2019, 4:12 p.m.
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: LiteratureCreated: 18 Feb 2019, 4:11 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type IIf, 603585; severe thrombocytopenia; hemorrhages; macrothrombocytopenia
Publications
Tag watchlist tag was added to gene: SLC35A1.
Gene: slc35a1 has been classified as Amber List (Moderate Evidence).
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