Table 2.
IBMFSs 
 FA 
 Diamond-Blackfan anemia 
 Shwachman-Diamond syndrome 
 Telomere biology disorders 
 Congenital amegakaryocytic thrombocytopenia 
 Severe congenital neutropenia 
Germ line predisposition and preexisting platelet disorders 
 Myeloid neoplasms with germ line RUNX1 mutation 
 Myeloid neoplasms with germ line ANKRD26 mutation 
 Myeloid neoplasms with germ line ETV6 mutation 
Myeloid neoplasms with germ line predisposition and other organ dysfunction 
 Myeloid neoplasms with germ line GATA2 mutation 
 MDS with germ line SAMD9/SAMD9L mutation 
IBMFSs 
 FA 
 Diamond-Blackfan anemia 
 Shwachman-Diamond syndrome 
 Telomere biology disorders 
 Congenital amegakaryocytic thrombocytopenia 
 Severe congenital neutropenia 
Germ line predisposition and preexisting platelet disorders 
 Myeloid neoplasms with germ line RUNX1 mutation 
 Myeloid neoplasms with germ line ANKRD26 mutation 
 Myeloid neoplasms with germ line ETV6 mutation 
Myeloid neoplasms with germ line predisposition and other organ dysfunction 
 Myeloid neoplasms with germ line GATA2 mutation 
 MDS with germ line SAMD9/SAMD9L mutation 

Modified by Arber et al.30 

FA, Fanconi anemia.

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