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Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

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Table 3.

Modes of Inheritance of Hereditary Disorders Known to be Associated with Monosomy 7 Predisposition Syndrome

MOIDisorderGenes
AD Neurofibromatosis 1 NF1
Rasopathies (See Noonan Syndrome.)CBL, KRAS, NRAS, PTPN11
CEBPA-assoc familial AML CEBPA
DDX41-assoc familial myelodysplastic syndrome & acute myeloid leukemia DDX41
GATA2 deficiency 1 GATA2
RUNX1 familial platelet disorder w/assoc myeloid malignancies 2 RUNX1
MIRAGE syndrome SAMD9
SAMD9L ataxia-pancytopenia syndrome SAMD9L
Li-Fraumeni syndrome TP53
AD or AR Shwachman-Diamond syndrome DNAJC21, ELF1, SBDS, SRP54
Severe congenital neutropenia (See ELANE-Related Neutropenia.)ELANE, G6PC3, GFI1, HAX1, JAGN, TCRG1, VPS45A
AR Bloom syndrome BLM
Bone marrow failure syndrome 2 3 ERCC6L2
Ligase 4 syndrome 4 LIG4
Constitutional mismatch repair deficiency (See Lynch Syndrome.)MLH1, MSH2, MSH6, PMS2
Werner syndrome WRN
Xeroderma pigmentosum group C XPC
AR, AD, or XL Fanconi anemia BRCA2, BRIP1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI (>20 genes) 5
XLGATA1-related Diamond-Blackfan anemia GATA1

AD = autosomal dominant; AML = acute myeloid leukemia; AR = autosomal recessive; DD = developmental delay; MDS = myelodysplastic syndrome; MOI = mode of inheritance; XL = X-linked

1.
2.
3.
4.
5.

Listed genes represent the most common genetic causes of Fanconi anemia (FA). For other genes associated with this phenotype (>20 genes have been identified), see Fanconi Anemia. FA can be inherited in an autosomal recessive manner, an autosomal dominant manner (RAD51-related FA), or an X-linked manner (FANCB-related FA).

From: Monosomy 7 Predisposition Syndromes Overview

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