To enhance the diagnostic process for classified IBMFS, specific genes can be considered: TERC for DC, RPS17 for DBA, CYCS, GP1BA, ITGA2B, ITGB3, RBM8 A, and TUBB1 for hereditary thrombocytopenia, as well as ABCB7, PUS1, ALAS2, and SLC25 A38 for congenital anemia. The gene discussed is PUS1; the disease is inherited thrombocytopenia.