Individuals with disease-associated DDX41 variants are at risk of familial myelodysplastic syndrome and acute myeloid leukemia (MDS/AML) with elevated risk for myeloid neoplasms, lymphoid neoplasms, adult-onset single- or multiple-lineage cytopenias (including aplastic anemia), and red blood cell macrocytosis (49). This evidence concerns the gene DDX41 and acute myeloid leukemia.