Table1. 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/ | AR | |
BRIP1 | ||
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.