Another example in which RVAS has enhanced our understanding of a known hematopoietic regulator is exemplified by human variation impacting RUNX1. Germline mutations leading to RUNX1 deficiency cause familial platelet disorder with predisposition to myeloid leukemia (FPDMM). The gene discussed is RUNX1; the disease is hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1.