ERCC6L2 disease. Characteristic features of ERCC6L2 disease are illustrated on a 3-phase continuum. In phase 1, individuals present with hypocellular BM with or without small TP53 mutated clonal hematopoiesis. Phase 2 depicts disease acceleration, including BMF, with increasing (possible biallelic) TP53 mutations progressing toward myeloid malignancy. Phase 3 represents overt HM with complex karyotype. PB, peripheral blood; M6, French-American-British subtype of acute erythroid leukemia. Figure created with BioRender.com.