Previously reported variants causative of GNE-associated thrombocytopenia have been located in the N-acetylmannosamine kinase domain of the UDP-N-acetyl-glucosamine-2-epimerase/N-acetylmannosamine kinase, except for one case of a compound heterozygous patient with a missense variant in exon 4 (c.562C>T, p.His188Tyr) (19). The gene discussed is GNE; the disease is Thrombocytopenia.