However, a limited number of variants in the GP1BA or GP1BB genes have been previously associated with mild autosomal-dominant macrothrombocytopenia; of note, most of these variants have been implicated in classical biallelic BSS when present in homozygosis or compound heterozygosis [2,26,27]. The gene discussed is GP1BA; the disease is autosomal dominant macrothrombocytopenia.