Table 1. MDS predisposition syndromes... | American Society of Hematology

Table 1.

MDS predisposition syndromes

Hematologic abnormalities	Syndrome	Gene function	Gene	Inheritance
Marrow failure	Dyskeratosis congenita/telomere biology disorder	Disorders of telomere maintenance	DKC1	X-linked
			TERC	AD
			TERT	AD, AR
			NOLA3/NOP10	AR
			NOLA2/NHP2	AR
			TINF2	AD
			WRAP53/TCAB1	AR
			CTC1	AR
			RTEL1	AD, AR
			ACD/ TPP1	AD, AR
			PARN	AD, AR
			NAF1	AD
			STN1	AD
	Fanconi anemia	DNA repair defect	FANCA	AR
			FANCB	X-linked
			FANCC	AR
			FANCD1/BRCA2	AR
			FANCD2	AR
			FANCE	AR
			FANCF	AR
			FANCG	AR
			FANCI	AR
			FANCJ/BRIP1/BACH1	AR
			FANCL	AR
			FANCM	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
			FANCW/RFWD3	AR
	GATA2 spectrum disorders	Transcription factor	GATA2	AD
	Shwachman-Diamond syndrome	Ribosomopathy	SBDS	AR
	Shwachman-Diamond syndrome		EFL1	AR
	SDS-like		SRP54	AD
	SDS-like		DNAJC21	AR
	MIRAGE syndrome	Suppression of cell proliferation	SAMD9	AD
	Ataxia-pancytopenia syndrome	Suppression of cell proliferation	SAMD9L	AD
	Bone marrow failure syndrome 1	Protein trafficking	SRP72	AD
	Bone marrow failure syndrome 2	Helicase	ERCC6L2	AR
Thrombocytopenia, platelet dysfunction	Thrombocytopenia 2	Abnormal megakaryopoiesis	ANKRD26	AD
	Familial platelet disorder with propensity to myeloid malignancy	Transcription factor	RUNX1	AD
	Thrombocytopenia 5	Transcription factor	ETV6	AD
Red cell aplasia	Diamond-Blackfan anemia	Ribosomopathy	GATA1	X-linked
			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
			(TSR2)	X-linked
Neutropenia, cyclic neutropenia	Severe congenital neutropenia	Unfolded protein response, apoptosis	ELANE	AD
Neutropenia		Apoptosis, mitochondrial membrane potential	HAX1	AR
		Transcriptional repressor	GFI1	AD
		Abnormal glucose metabolism	G6PC3	AR
		Abnormal glycosylation	JAGN1	AR
	X-linked neutropenia	Defect in mitosis and cytokinesis	WAS	X-linked
	Bloom syndrome	DNA repair defect in homologous recombination, chromosomal instability	BLM	AR
	Constitutional mismatch repair deficiency syndrome (Lynch syndrome)	DNA repair defect	MLH1	AD
			MSH2	AD
			MSH6	AD
			PMS2	AD
			EPCAM	AD
	Down syndrome	Chromosomal abnormality; trisomy 21	Trisomy 21	Variable
		EGFR family tyrosine kinase	ERBB3	AD
	Familial AML	Transcription factor	CEBPA	AD
	Li-Fraumeni syndrome	Germline p53 mutations, tumor suppressor	p53	AD
	Ligase IV syndrome	DNA repair defect	LIG4	AR
	MBD4	5mC deamination	MBD4	AR
	Neurofibromatosis 1	Ras pathway	NF1	AD
	Nijmegen breakage syndrome	DNA repair defect, double-stranded DNA repair	NBN	AR
	Noonan syndrome Noonan-like	Ras pathway mutations	PTPN11	AD
	Noonan-like	Ras pathway mutations	CBL	AD
	Susceptibility to acute myeloid leukemia	Tumor suppressor	DDX41	AD
	Trisomy 8 mosaicism	Chromosomal abnormality; trisomy 8	Trisomy 8	Variable
	Werner syndrome	DNA replication/repair defect, RecQ helicase	WRN	AR

Hematologic abnormalities	Syndrome	Gene function	Gene	Inheritance
Marrow failure	Dyskeratosis congenita/telomere biology disorder	Disorders of telomere maintenance	DKC1	X-linked
			TERC	AD
			TERT	AD, AR
			NOLA3/NOP10	AR
			NOLA2/NHP2	AR
			TINF2	AD
			WRAP53/TCAB1	AR
			CTC1	AR
			RTEL1	AD, AR
			ACD/ TPP1	AD, AR
			PARN	AD, AR
			NAF1	AD
			STN1	AD
	Fanconi anemia	DNA repair defect	FANCA	AR
			FANCB	X-linked
			FANCC	AR
			FANCD1/BRCA2	AR
			FANCD2	AR
			FANCE	AR
			FANCF	AR
			FANCG	AR
			FANCI	AR
			FANCJ/BRIP1/BACH1	AR
			FANCL	AR
			FANCM	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
			FANCW/RFWD3	AR
	GATA2 spectrum disorders	Transcription factor	GATA2	AD
	Shwachman-Diamond syndrome	Ribosomopathy	SBDS	AR
	Shwachman-Diamond syndrome		EFL1	AR
	SDS-like		SRP54	AD
	SDS-like		DNAJC21	AR
	MIRAGE syndrome	Suppression of cell proliferation	SAMD9	AD
	Ataxia-pancytopenia syndrome	Suppression of cell proliferation	SAMD9L	AD
	Bone marrow failure syndrome 1	Protein trafficking	SRP72	AD
	Bone marrow failure syndrome 2	Helicase	ERCC6L2	AR
Thrombocytopenia, platelet dysfunction	Thrombocytopenia 2	Abnormal megakaryopoiesis	ANKRD26	AD
	Familial platelet disorder with propensity to myeloid malignancy	Transcription factor	RUNX1	AD
	Thrombocytopenia 5	Transcription factor	ETV6	AD
Red cell aplasia	Diamond-Blackfan anemia	Ribosomopathy	GATA1	X-linked
			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
			(TSR2)	X-linked
Neutropenia, cyclic neutropenia	Severe congenital neutropenia	Unfolded protein response, apoptosis	ELANE	AD
Neutropenia		Apoptosis, mitochondrial membrane potential	HAX1	AR
		Transcriptional repressor	GFI1	AD
		Abnormal glucose metabolism	G6PC3	AR
		Abnormal glycosylation	JAGN1	AR
	X-linked neutropenia	Defect in mitosis and cytokinesis	WAS	X-linked
	Bloom syndrome	DNA repair defect in homologous recombination, chromosomal instability	BLM	AR
	Constitutional mismatch repair deficiency syndrome (Lynch syndrome)	DNA repair defect	MLH1	AD
			MSH2	AD
			MSH6	AD
			PMS2	AD
			EPCAM	AD
	Down syndrome	Chromosomal abnormality; trisomy 21	Trisomy 21	Variable
		EGFR family tyrosine kinase	ERBB3	AD
	Familial AML	Transcription factor	CEBPA	AD
	Li-Fraumeni syndrome	Germline p53 mutations, tumor suppressor	p53	AD
	Ligase IV syndrome	DNA repair defect	LIG4	AR
	MBD4	5mC deamination	MBD4	AR
	Neurofibromatosis 1	Ras pathway	NF1	AD
	Nijmegen breakage syndrome	DNA repair defect, double-stranded DNA repair	NBN	AR
	Noonan syndrome Noonan-like	Ras pathway mutations	PTPN11	AD
	Noonan-like	Ras pathway mutations	CBL	AD
	Susceptibility to acute myeloid leukemia	Tumor suppressor	DDX41	AD
	Trisomy 8 mosaicism	Chromosomal abnormality; trisomy 8	Trisomy 8	Variable
	Werner syndrome	DNA replication/repair defect, RecQ helicase	WRN	AR

5mC, 5-methylcytosine; AD, autosomal dominant; AR, autosomal recessive; AML, acute myeloid leukemia; EGFR, epidermal growth factor receptor; MIRAGE, myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy; SDS, Shwachman-Diamond syndrome.

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