We previously described a germline SAMD9 variant (p.E1136Q) in three siblings with isolated familial MDS23, and others have described SAMD9 and SAMD9L variants as causative lesions in MIRAGE syndrome19,20 and Ataxia-Pancytopenia Syndrome (APS)21 or a syndrome resembling APS but with less severe neurological manifestations22, respectively. The gene discussed is SAMD9; the disease is ataxia-pancytopenia syndrome.