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. This evidence concerns the gene RPS17 and congenital anemia.