GATA2 and myelodysplastic syndrome: Her phenotype can probably be explained by a heterozygous variant (p.P41A) in the gene encoding the haematopoietic transcription factor GATA binding protein 2 (GATA2), which had been documented previously in a patient with myelodysplastic syndrome (MDS) (Holme et al, 2012), despite a frequency of heterozygotes of 0·21% (134 of 123 458 total alleles) in gnomAD (http://gnomad.broadinstitute.org/, accessed March 2018) amongst non‐Finnish Europeans (Table 2).