Patients with Diamond–Blackfan anemia, Fanconi anemia, dyskeratosis congenita, and familial thrombocytopenia/AML and MDS predisposition syndromes due to RUNX1, ANKRD26 gene mutations, and GATA2-associated MDS/AML met these criteria. The gene discussed is GATA2; the disease is acute myeloid leukemia.