Clinical Domain Working Groups

The Hemostasis/Thrombosis GCEP plans to start with genes previously curated by the International Society of Thrombosis/Hemostasis (ISTH) Scientific and Standardization Committee for Genomics in Thrombosis and Hemostasis (SSC-GinTH).  The SSC-GinTH curated a list of genes associated with bleeding and clotting disorders in order to create a recommended gene panel (ThromboGenomics Panel) for clinical use, which includes 99 genes. We plan to compare their metric with the ClinGen Gene Curation Matrix by recurating their list of genes and will make those curations available on the ClinGen website.  Moving forward, our group has a memorandum of understanding with the ISTH to curate genes recommended by members of the SSC-GinTH.