Over a third (19) of the patients were enrolled with a diagnosis of ‘unclassified platelet disorder’ while the remaining (31) had a suspected (11) or known (20) but unconfirmed MYH9‐RD, based on family history, presence of large/giant platelets, thrombocytopenia, presence of Döhle‐like bodies and/or extra‐hematological symptoms. The gene discussed is MYH9; the disease is Thrombocytopenia.