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Chapter 29 Inherited Bone Marrow Failure Syndromes 351

TABLE Inherited Bone Marrow Failure Syndromes: Inheritance and Mutated Genes
29.1
Disorder Inheritance Gene
Fanconi anemia AR FANCA, FANCC, FANCD1/BRCA2, FANCD2, FANCE, FANCF, FANCG/XRCC9,
FANCI, FANCJ/BRIP1, FANCL/PHF9, FANCM, FANCN/PALB2, FANCO/
RAD51C, FANCP/SLX4, FANCQ/ERCC4, FANCR/XRCC2, FANCS/BRCA1
XLR FANCB
AR ERCC1/XPF
(FA/XP/Cockayne)
Shwachman-Diamond syndrome AR SBDS
Dyskeratosis congenita XLR DKC1
AD TINF2, TERC, TERT
AR RTEL1, NOP10, NHP2, TCAB1, CTC1, TPP1
Congenital amegakaryocytic thrombocytopenia AR MPL
Lig4-associated aplastic anemia AR LIG4
Other inherited aplastic anemia AR ERCC6L2
Other inherited aplastic anemia AR/AD THPO
Reticular dysgenesis AR AK2
Cartilage-hair hypoplasia AR RMRP
Pearson syndrome Maternal mDNA
Familial thrombocytopenia with predisposition to AML AD CBFA2/ RUNX1
AD ETV6
Familial aplasia and myelodysplasia AD SRP72
Familial myelodysplastic syndrome (MonoMac AD GATA2
syndrome, Emberger syndrome)
Seckel syndrome AR ATR/SCKL1, RBBP8/SCKL2, CENPJ/SCKL4, CEP152/SCKL5, CEP63/
SCKL6, ATRIP/SCKL8
Schimke immunoosseous dysplasia AR SMARCL1
Rothmud-Thomson syndrome AR RECQL4
Li-Fraumeni syndrome AD TP53
Dubowitz syndrome AR NSUN2
Noonan syndrome AD PTPN11, SOS1, KRAS, NRAS, RAF1, BRAF, SHOC2, MEK1, CBL, RASA2,
RIT1, MAP2K1, SOS2, LZTR1
Diamond-Blackfan anemia AD RPS7, RPS10, RPS17, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29,
RPL5, RPL11, RPL26, RPL27, RPL31, RPL35a
XL GATA1
Inherited sideroblastic anemia XL ALAS2
XL ABCB7
AR SLC19A2, GLRX5, PUS1, SLC25A38, YARS2, TRNT1
Maternal MT-ATP6
Congenital dyserythropoietic anemia type I AR CDAN1, C15ORF41
Congenital dyserythropoietic anemia type II AR SEC23B
Congenital dyserythropoietic anemia type III AD KIF23
Congenital dyserythropoietic anemia—unclassified AR KLF1
Kostmann/Severe congenital neutropenia AD ELA2, GFI1, JAGN1
AR HAX1, G6PC3, VPS45, TCIRG1
XLR WASP
Cyclic neutropenia AD ELA2
WHIM syndrome AD CXCR4
Glycogen storage diseases Ib AR G6PT/SLC37A4
Barth syndrome XL TAZ
Poikiloderma with neutropenia AR C16orf57
Neutropenia, immune deficiency and skeletal AR PGM3
dysplasia and glycosylating defect
Cohen syndrome AR COH1/VPS13B
Dominant intermediate Charcot-Marie-Tooth AD DNM2
Continued