This approach enabled us to include patients with diverse haematological conditions and thereby to also discover uncommon and unexpected diseases, such as HX (Patients 7 and 8), CDA1 (Patients 9 and 10), RUNX1‐related thrombocytopenia (Patient 12), GATA2‐related neutropenia (Patient 14), or NHEJ‐related combined immunodeficiency with transformation to MDS (Patient 17). The gene discussed is GATA2; the disease is myelodysplastic syndrome.