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. Author manuscript; available in PMC: 2017 Dec 2.
Published in final edited form as: Hematology Am Soc Hematol Educ Program. 2016 Dec 2;2016(1):74–82. doi: 10.1182/asheducation-2016.1.74

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.