SAMD9L and ataxia-pancytopenia syndrome: Heterozygous pathogenic variants in SAMD9L have been described in a spectrum of multisystem disorders, including non-syndromic (familial) myelodysplastic syndrome with monosomy 7 (OMIM #252270) [1,2,3], SAMD9L-mediated autoinflammatory disease [4], Ataxia-pancytopenia syndrome (OMIM #159550) [5,6,7,8,9,10,11], and Spinocerebellar ataxia 49 (OMIM #619806) [12].