Germline mutations in ERCC6L2 have been convincingly linked to development of BMF and MDS/AML, with >30 patients now reported in the literature,3, 4, 5, 6, 7, 9, 21, 22 and while some molecular hallmarks of ERCC6L2‐deficiency have been described,3, 7 the implications on haematopoiesis are ill‐defined. The gene discussed is ERCC6L2; the disease is myelodysplastic syndrome.