GATA2 deficiency syndrome (G2DS) (MIM#s 601626, 614286, 614038, 614172; GATA2 deficiency with susceptibility to MDS/AML, MONDO:0042982) is a collective of hematological (malignant and nonmalignant) and nonhematological phenotypes due to germline predisposing variants in the GATA2 gene that act in a partially penetrant autosomal dominant manner. The gene discussed is GATA2; the disease is acute myeloid leukemia.