Table 1.
Germ line genetic bone marrow failure disorders
| Disorder | Gene | Inheritance |
|---|---|---|
| Congenital amegakaryocytic thrombocytopenia | MPL | AR |
| Diamond Blackfan anemia | RPL5 | AD |
| RPL11 | AD | |
| RPL15 | AD | |
| RPL23 | AD | |
| RPL26 | AD | |
| RPL27 | AD | |
| RPL31 | AD | |
| RPL35a | AD | |
| RPL36 | AD | |
| RPS7 | AD | |
| RPS10 | AD | |
| RPS15 | AD | |
| RPS17 | AD | |
| RPS19 | AD | |
| RPS24 | AD | |
| RPS26 | AD | |
| RPS27 | AD | |
| RPS27A | AD | |
| RPS28 | AD | |
| RPS29 | AD | |
| GATA1 | X-linked | |
| Dyskeratosis congenita | ACD/TPP1 | AR, AD |
| CTC1 | AR | |
| DKC1 | X-linked | |
| NOLA2/NHP2 | AR | |
| NOLA3/NOP10 | AR | |
| PARN | AR, AD | |
| RTEL1 | AR, AD | |
| TERC | AD | |
| TERT | AR, AD | |
| TINF2 | AD | |
| WRAP53/TCAB1 | AR | |
| Fanconi anemia | FANCA | AR |
| FANCB | X-linked | |
| FANCC | AR | |
| FANCD1/BRCA2 | AR | |
| FANCD2 | AR | |
| FANCE | AR | |
| FANCF | AR | |
| FANCG | AR | |
| FANCI | AR | |
| FANCJ/BACH1/BRIP1 | AR | |
| FANCL | AR | |
| FANCN/PALB2 | AR | |
| FANCO/RAD51C | AR | |
| FANCP/SLX4 | AR | |
| FANCQ/ERCC4 | AR | |
| FANCR/Rad51 | AD | |
| FANCS/BRCA1 | AR | |
| FANCT/UBE2T | AR | |
| FANCU/XRCC2 | AR | |
| FANCV/REV7 | AR | |
| GATA2 spectrum disorders | GATA2 | AD |
| Shwachman-Diamond syndrome | SBDS | AR |
| SRP72 | SRP72 | AD |
Only multilineage bone marrow failure disorders are included here.