Haematological malignancies (Version 0.147)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 122 Entitiess
Green Green List (high evidence)	ACD	2 reviews 1 green 1 red	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, autosomal recessive 7, OMIM:616553 Dyskeratosis congenita, autosomal dominant 6, OMIM:616553 MDS, AML Oral and GI squamous cell carcinoma Tags
Green Green List (high evidence)	ANKRD26	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Thrombocytopenia 2 MDS, AML, CMML Class: familial predisp to leukaemia (typ AD) Quantitative and qualitative platelet disorders with propensity to myeloid malignancy Tags
Green Green List (high evidence)	ATM	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes T-cell prolymphocytic leukemia, somatic Ataxia-telangiectasia, OMIM:208900 Tags
Green Green List (high evidence)	BLM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Phenotypes Bloom syndrome, OMIM:210900 Tags
Green Green List (high evidence)	BRCA1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert list Expert Review Green Phenotypes Fanconi anemia, complementation group S, OMIM:617883 Tags
Green Green List (high evidence)	BRCA2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fanconi anemia, complementation group D1, OMIM:605724 Tags
Green Green List (high evidence)	BRIP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fanconi anemia, complementation group J, OMIM:609054 Tags
Green Green List (high evidence)	CBL	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Class: Ras-opathy Noonan-like JMML Tags
Green Green List (high evidence)	CD27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lymphoproliferative syndrome 2 CD27-deficiency MIM# 615122 hepatosplenomegaly reduced CD8+ T-cell function lymphadenopathy hepatosplenomegaly fever increased susceptibility to EBV infection aplastic anaemia Tags
Green Green List (high evidence)	CD70	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lymphoproliferative syndrome 3, MIM# 618261 Tags treatable
Green Green List (high evidence)	CEBPA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes No other known cancer risks Familial AML with mutated CEBPA AML Class: familial predisp to leukaemia (typ AD) Tags
Green Green List (high evidence)	CTC1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bone marrow failure, macrocytosis MDS AML Skin, head and neck, and anogenital squamous cell cancers, Oral and GI squamous cell carcinoma Class: BM failure FA, (typ AR) Dyskeratosis congenita Tags
Green Green List (high evidence)	DDX41	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert list Expert Review Green Phenotypes DDX41-related AML SCN3 CML AML, MDS (late onset), possibly others No other known cancer risks Class: familial predisp to leukaemia (typ AD) Tags
Green Green List (high evidence)	DKC1	3 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Curated sources Expert Review Expert Review Green Victorian Clinical Genetics Services Phenotypes MDS, AML Bone marrow failure, macrocytosis Class: BM failure syndrome (typ AR) Skin, head and neck, and anogenital squamous cell cancers, Oral and GI squamous cell carcinoma Dyskeratosis congenita Tags
Green Green List (high evidence)	DNAJC21	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Bone marrow failure syndrome 3, MONDO:0014887 Bone marrow failure syndrome 3, OMIM:617052 Tags
Green Green List (high evidence)	DOCK8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Phenotypes Lymphoma Class: miscellaneous HyperIgE syndrome Squamous cell carcinoma Tags
Green Green List (high evidence)	ELANE	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Class: miscellaneous Severe congenital neutropenia MDS, AML Tags
Green Green List (high evidence)	ERCC4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MDS Fanconi anemia AML Squamous cell carcinoma: oral, GI, vulvar Class: BM failure FA, (typ AR) Tags
Green Green List (high evidence)	ERCC6L2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Phenotypes Bone marrow failure syndrome 2, OMIM:615715 Tags
Green Green List (high evidence)	ERG	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Myelodysplasia syndrome, MONDO:0018881, ERG-related Tags
Green Green List (high evidence)	ETV6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Thrombocytopenia 5 Thrombocytopenia Quantitative and qualitative platelet disorders with propensity to myeloid malignancy No other known cancer risks Class: familial predisp to leukaemia (typ AD) ALL, MDS, AML, CMML Tags
Green Green List (high evidence)	FANCA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes AML, Leukaemia MDS leukaemia AML Squamous cell carcinoma: oral, GI, vulvar Class: BM failure FA, (typ AR) Fanconi anaemia A Tags
Green Green List (high evidence)	FANCB	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bone marrow failure MDS Fanconi anemia AML Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar Class: BM failure FA, (typ AR) Tags
Green Green List (high evidence)	FANCC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes AML, Leukaemia Bone marrow failure MDS Fanconi anemia leukaemia AML Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar Fanconi anaemia C Class: BM failure FA, (typ AR) Tags
Green Green List (high evidence)	FANCD2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Phenotypes Bone marrow failure MDS AML, Acute myeloid leukaemia (AML) leukaemia AML Fanconi anaemia D2 Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar Class: BM failure FA, (typ AR) Tags
Green Green List (high evidence)	FANCE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bone marrow failure Fanconi anaemia E MDS leukaemia AML Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar Class: BM failure FA, (typ AR) Tags
Green Green List (high evidence)	FANCF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes AML, Leukaemia Bone marrow failure MDS leukaemia AML Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar Class: BM failure FA, (typ AR) Fanconi anaemia F Tags
Green Green List (high evidence)	FANCG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fanconi anaemia G AML, Leukaemia Bone marrow failure MDS leukaemia AML Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar Class: BM failure FA, (typ AR) Tags
Green Green List (high evidence)	FANCI	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bone marrow failure MDS Fanconi anemia AML Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar Class: BM failure FA, (typ AR) Tags
Green Green List (high evidence)	FANCL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bone marrow failure MDS Fanconi anemia AML Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar Class: BM failure FA, (typ AR) Tags
Green Green List (high evidence)	FANCM	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes FANCM Fanconi-like genomic instability disorder MONDO:0100578 Tags
Green Green List (high evidence)	FAS	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Autoimmunie lymphoproliferative syndrome Class: miscellaneous Lymphoma Tags
Green Green List (high evidence)	FASLG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes autoimmune lymphoproliferative syndrome MONDO:0017979 Tags
Green Green List (high evidence)	GATA1	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteosarcoma, soft tissue sarcomas Diamond Blackfan Anemia MDS, AML Class: BM failure syndrome (typ AR) Tags
Green Green List (high evidence)	GATA2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MDS, AML, CMML No other known cancer risks Class: familial predisp to leukaemia (typ AD) Monocytopenia and mycobacterial infection syndrome, Emberger syndrome, immune deficiencies Familial AML with mutated GATA2, GATA2-spectrum disorders Tags
Green Green List (high evidence)	GBA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Class: miscellaneous Myeloma Lymphoma Hepatocellular carcinoma Gauchers type 1 Tags
Green Green List (high evidence)	HAX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Class: miscellaneous MDS, AML Tags
Green Green List (high evidence)	IKZF1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Phenotypes Acute lymphoblastic leukaemia (ALL) Immunodeficiency, common variable, 13, OMIM:616873 Tags
Green Green List (high evidence)	ITK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Phenotypes Lymphoproliferative syndrome 1 Hodgkins lymphoma Class: miscellaneous Tags
Green Green List (high evidence)	LIG4	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes LIG4 syndrome, OMIM:606593 ALL Ligase IV syndrome Lymphoma Tags
Green Green List (high evidence)	MBD4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature NHS GMS Phenotypes Tumor predisposition syndrome 2, OMIM:619975 Uveal melanoma Acute myeloid leukemia Multi-organ tumour predisposition syndrome Adenomatous colorectal polyposis Colorectal cancer Tags
Green Green List (high evidence)	MDM4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes bone marrow failure syndrome 6, MONDO:0030015 Tags
Green Green List (high evidence)	MLH1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Phenotypes Class: Familial cancer syndrome Constitutional mismatch repair deficiency Lymphoma, ALL, MDS, AML Brain tumors, gastrointestinal cancers, GI (colon), ovarian, uterine, CNS, other Tags
Green Green List (high evidence)	MSH2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Phenotypes Class: Familial cancer syndrome Constitutional mismatch repair deficiency Lymphoma, ALL, MDS, AML Brain tumors, gastrointestinal cancers, GI (colon), ovarian, uterine, CNS, other Tags
Green Green List (high evidence)	MSH6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Phenotypes Class: Familial cancer syndrome Lymphoma, ALL, MDS, AML Constitutional mismatch repair deficiency syndrome (Lynch syndrome) Brain tumors, gastrointestinal cancers, GI (colon), ovarian, uterine, CNS, other Tags
Green Green List (high evidence)	NAF1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert list Expert Review Green Phenotypes Oral and GI squamous cell carcinoma MDS, AML Dyskeratosis congenita Class: BM failure syndrome (typ AR) Tags
Green Green List (high evidence)	NBN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Non-Hodgkin lymphoma and ALL (primarily T cell), Lymphoma Nijmegen breakage syndrome medulloblastoma glioma rhabdomyosarcoma Class: BM failure syndrome (typ AR) NHL (non-Hodgkin lymphoma) Rare reports of brain tumors, rhabdomyosarcoma Tags
Green Green List (high evidence)	NF1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Phenotypes Class: Ras-opathy JMML, AML Optic glioma, malignant peripheral nerve sheath tumor Neurofibromatosis Tags
Green Green List (high evidence)	NHP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MDS, AML Bone marrow failure, macrocytosis Class: BM failure syndrome (typ AR) Skin, head and neck, and anogenital squamous cell cancers, Oral and GI squamous cell carcinoma Dyskeratosis congenita Tags
Green Green List (high evidence)	PALB2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bone marrow failure MDS Fanconi anemia AML Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar Class: BM failure FA, (typ AR) Tags
Green Green List (high evidence)	PARN	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, OMIM:616371 Dyskeratosis congenita, autosomal recessive 6, OMIM:616353 Tags
Green Green List (high evidence)	PAX5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes No other known cancer risks ALL, B-ALL Class: familial predisp to leukaemia (typ AD) PAX5-related familial ALL, Susceptibility to ALL 3 Tags
Green Green List (high evidence)	PMS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Phenotypes Class: Familial cancer syndrome Lymphoma, ALL, MDS, AML Constitutional mismatch repair deficiency syndrome (Lynch syndrome) Brain tumors, gastrointestinal cancers, GI (colon), ovarian, uterine, CNS, other Tags
Green Green List (high evidence)	POT1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Expert Review Green Phenotypes Multiple myeloma Tumor predisposition syndrome 3, OMIM:615848 Lymphoid and myeloid cancers Tags
Green Green List (high evidence)	PRF1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes lymphoma Lymphoma, Leukaemia various leukaemia Class: familial predisp to leukaemia (typ AD) Tags
Green Green List (high evidence)	PTPN11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Phenotypes Class: Ras-opathy Solid tumors Noonan syndrome JMML, ALL Tags
Green Green List (high evidence)	RAD21	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes Children to Lymphoblastic Leukemia or Lymphoma Tags
Green Green List (high evidence)	RMRP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Non-hodgkin lymphoma Squamous carcinoma (bcc) Leukemia Class: miscellaneous Cartilage-hair hypoplasia syndrome Tags
Green Green List (high evidence)	RPL11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteosarcoma, soft tissue sarcomas Diamond Blackfan Anemia MDS, AML Class: BM failure syndrome (typ AR) Tags
Green Green List (high evidence)	RPL15	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteosarcoma, soft tissue sarcomas Diamond Blackfan Anemia MDS, AML Class: BM failure syndrome (typ AR) Tags
Green Green List (high evidence)	RPL35A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteosarcoma, soft tissue sarcomas Diamond Blackfan Anemia MDS, AML Class: BM failure syndrome (typ AR) Tags
Green Green List (high evidence)	RPL5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteosarcoma, soft tissue sarcomas Diamond Blackfan Anemia MDS, AML Class: BM failure syndrome (typ AR) Tags
Green Green List (high evidence)	RPS10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteosarcoma, soft tissue sarcomas Diamond Blackfan Anemia MDS, AML Class: BM failure syndrome (typ AR) Tags
Green Green List (high evidence)	RPS17	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteosarcoma, soft tissue sarcomas Diamond Blackfan Anemia MDS, AML Class: BM failure syndrome (typ AR) Tags
Green Green List (high evidence)	RPS19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteosarcoma, soft tissue sarcomas Diamond Blackfan Anemia MDS, AML Class: BM failure syndrome (typ AR) Tags
Green Green List (high evidence)	RPS24	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteosarcoma, soft tissue sarcomas Diamond Blackfan Anemia MDS, AML Class: BM failure syndrome (typ AR) Tags
Green Green List (high evidence)	RPS26	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteosarcoma, soft tissue sarcomas Diamond Blackfan Anemia MDS, AML Class: BM failure syndrome (typ AR) Tags
Green Green List (high evidence)	RPS28	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteosarcoma, soft tissue sarcomas Diamond Blackfan Anemia MDS, AML Class: BM failure syndrome (typ AR) Tags
Green Green List (high evidence)	RPS7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteosarcoma, soft tissue sarcomas Diamond Blackfan Anemia MDS, AML Class: BM failure syndrome (typ AR) Tags
Green Green List (high evidence)	RTEL1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Oral and GI squamous cell carcinoma MDS, AML Dyskeratosis congenita Class: BM failure syndrome (typ AR) Tags
Green Green List (high evidence)	RUNX1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Phenotypes Quantitative and qualitative platelet disorders with propensity to myeloid malignancy, Familial platelet disorder with propensity to myeloid malignancy AML, MDS Thrombocytopenia No other known cancer risks Class: familial predisp to leukaemia (typ AD) Tags
Green Green List (high evidence)	SAMD9	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MIRAGE syndrome, MIM#617053 Tumoral calcinosis, familial, normophosphatemic, MIM#610455 Monosomy 7 myelodysplasia and leukemia syndrome 2, MIM# 619041 Tags
Green Green List (high evidence)	SAMD9L	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MDS, AML Class: miscellaneous Ataxia Pancytopenia Syndrome Tags
Green Green List (high evidence)	SBDS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MDS, AML Schwachman-Diamond syndrome MDS Class: BM failure syndrome (typ AR) AML Tags
Green Green List (high evidence)	SH2D1A	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lymphoproliferative disease Class: miscellaneous Lymphoma Tags
Green Green List (high evidence)	SLX4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bone marrow failure MDS Fanconi anemia AML Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar Class: BM failure FA, (typ AR) Tags
Green Green List (high evidence)	STAT3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukaemia paediatric large granular lymphocytic leukaemia Class: familial predisp to leukaemia (typ AD) Tags
Green Green List (high evidence)	STN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert list Expert Review Green Phenotypes Oral and GI squamous cell carcinoma MDS, AML Dyskeratosis congenita Class: BM failure syndrome (typ AR) Tags
Green Green List (high evidence)	TERC	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MDS, AML Bone marrow failure, macrocytosis Class: BM failure syndrome (typ AR) Skin, head and neck, and anogenital squamous cell cancers, Oral and GI squamous cell carcinoma Dyskeratosis congenita Tags
Green Green List (high evidence)	TERT	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM:614742 {Leukemia, acute myeloid}, OMIM:601626 Dyskeratosis congenita, autosomal recessive 4, OMIM:613989 Dyskeratosis congenita, autosomal dominant 2, OMIM:613989 Tags
Green Green List (high evidence)	TINF2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MDS, AML Bone marrow failure, macrocytosis Class: BM failure syndrome (typ AR) Skin, head and neck, and anogenital squamous cell cancers, Oral and GI squamous cell carcinoma Dyskeratosis congenita Tags
Green Green List (high evidence)	TP53	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Phenotypes Class: Familial cancer syndrome ALL, AML, MDS Adrenal, breast, brain, and lung sarcoma, gastrointestinal cancers, Breast cancer, osteosarcoma, soft tissue sarcomas, brain tumors, adrenocortical carcinoma Li-Fraumeni syndrome Tags
Green Green List (high evidence)	UBE2T	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MDS Fanconi anemia AML Squamous cell carcinoma: oral, GI, vulvar Class: BM failure FA, (typ AR) Tags
Green Green List (high evidence)	WAS	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes lymphoma MDS, AML, Lymphoma Class: BM failure syndrome (typ AR) Wiskott Adrich Syndrome X-linked neutropenia Tags
Green Green List (high evidence)	WRAP53	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MDS, AML Bone marrow failure, macrocytosis Class: BM failure syndrome (typ AR) Skin, head and neck, and anogenital squamous cell cancers, Oral and GI squamous cell carcinoma Dyskeratosis congenita Tags
Green Green List (high evidence)	XRCC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MDS Fanconi anemia AML Squamous cell carcinoma: oral, GI, vulvar Class: BM failure FA, (typ AR) Tags
Amber Amber List (moderate evidence)	ADA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Severe combined immunodeficiency due to ADA deficiency, OMIM: 102700 Tags
Amber Amber List (moderate evidence)	DHX34	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes acute myeloid leukemia myelodysplastic syndrome Tags
Amber Amber List (moderate evidence)	DNAH9	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes MDS/AML inherited bone marrow failure (IBMF) Tags
Amber Amber List (moderate evidence)	HAVCR2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Expert Review Amber Literature Phenotypes subcutaneous panniculitis-like T-cell lymphoma, MONDO:0019475 T-cell lymphoma, subcutaneous panniculitis-like, OMIM:618398 Tags
Amber Amber List (moderate evidence)	KDM1A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Multiple myeloma Tags
Amber Amber List (moderate evidence)	NAPRT	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Amber Literature Phenotypes MDS/AML inherited bone marrow failure series Tags
Amber Amber List (moderate evidence)	NOP10	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Oral and GI squamous cell carcinoma MDS, AML Dyskeratosis congenita Class: BM failure syndrome (typ AR) Tags
Amber Amber List (moderate evidence)	PTPN13	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes bone marrow failure and acute lymphoblastic leukemia Tags
Amber Amber List (moderate evidence)	RAD51	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Amber Expert Review Green Victorian Clinical Genetics Services Phenotypes Fanconi anemia, complementation group R, OMIM:617244 Tags
Amber Amber List (moderate evidence)	RAD51C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Bone marrow failure MDS Fanconi anemia AML Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar Class: BM failure FA, (typ AR) Tags
Amber Amber List (moderate evidence)	RPL27	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Curated sources Expert Review Amber NHS GMS Victorian Clinical Genetics Services Phenotypes Osteosarcoma, soft tissue sarcomas Diamond-Blackfan anaemia 16, MIM# 617408 MDS, AML Class: BM failure syndrome (typ AR) Tags
Amber Amber List (moderate evidence)	RPL31	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Osteosarcoma, soft tissue sarcomas Diamond Blackfan Anemia MDS, AML Class: BM failure syndrome (typ AR) Tags
Amber Amber List (moderate evidence)	RPL36	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Amber Phenotypes Osteosarcoma, soft tissue sarcomas Diamond Blackfan Anemia MDS, AML Class: BM failure syndrome (typ AR) Diamond-Blackfan anemia MONDO:0015253 Tags
Amber Amber List (moderate evidence)	RPL8	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Diamond-Blackfan anemia MONDO:0015253 Tags
Amber Amber List (moderate evidence)	RPL9	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Diamond Blackfan anaemia Tags
Amber Amber List (moderate evidence)	RPS20	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Diamond Blackfan anaemia Tags
Amber Amber List (moderate evidence)	RPS29	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Osteosarcoma, soft tissue sarcomas Diamond Blackfan Anemia MDS, AML Class: BM failure syndrome (typ AR) Tags
Amber Amber List (moderate evidence)	SH2B3	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Curated sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Autoimmunity No other known cancer risks Class: familial predisp to leukaemia (typ AD) SH2B3-related familial ALL ALL Tags
Amber Amber List (moderate evidence)	SRP54	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Neutropaenia, severe congenital, 8, autosomal dominant, MIM# 618752 Tags
Amber Amber List (moderate evidence)	SRP72	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Bone marrow failure syndrome 1, MIM# 614675 Tags disputed
Amber Amber List (moderate evidence)	STX11	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Hemophagocytic lymphohistiocytosis, familial, 4 603552 Tags
Amber Amber List (moderate evidence)	STXBP2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes risk of lymphoma predisposition to acute lymphoblastic leukemia (ALL) Hemophagocytic lymphohistiocytosis, familial, 5 613101 Tags
Amber Amber List (moderate evidence)	TCF3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes B-cell acute lymphoblastic leukemia, MONDO:0004947 Tags
Red Red List (low evidence)	CSF3R	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Hereditary neutrophilia Neutropenia, severe congenital, 7, autosomal recessive, OMIM:617014 Acute myeloid leukaemia Tags
Red Red List (low evidence)	MAD2L2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert list Expert Review Red Phenotypes MDS Fanconi anemia AML Squamous cell carcinoma: oral, GI, vulvar Class: BM failure FA, (typ AR) Tags
Red Red List (low evidence)	NRAS	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Other Phenotypes Noonan syndrome 6, MIM# 613224 Tags
Red Red List (low evidence)	RPL23	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Red Phenotypes Osteosarcoma, soft tissue sarcomas Diamond Blackfan Anemia MDS, AML Class: BM failure syndrome (typ AR) Tags
Red Red List (low evidence)	RPL26	3 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Osteosarcoma, soft tissue sarcomas Diamond Blackfan Anemia MDS, AML Class: BM failure syndrome (typ AR) Tags
Red Red List (low evidence)	RPL35	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Diamond-Blackfan anemia 19, MIM# 618312 Tags
Red Red List (low evidence)	RPS15	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Expert Review Red NHS GMS Phenotypes Chronic lymphocytic leukemia Diamond-Blackfan anemia Tags
Red Red List (low evidence)	RPS15A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Diamond-Blackfan anemia 20, MIM# 618313 Tags
Red Red List (low evidence)	RPS27	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Class: BM failure syndrome (typ AR) Osteosarcoma, soft tissue sarcomas MDS, AML ?Diamond-Blackfan anemia 17, OMIM:617409 Tags
Red Red List (low evidence)	RPS27A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Red Phenotypes Osteosarcoma, soft tissue sarcomas Diamond Blackfan Anemia MDS, AML Class: BM failure syndrome (typ AR) Tags
Red Red List (low evidence)	TSR2	1 review 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Curated sources Expert Review Red NHS GMS Victorian Clinical Genetics Services Phenotypes Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946 Tags
Red Red List (low evidence)	UBA2	1 review	Other	Sources Expert Review Red Literature Phenotypes acute lymphoblastic leukemia Tags
Red Red List (low evidence)	UNC13D	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Literature Phenotypes increased susceptibility to malignancy predisposition to childhood anaplastic large cell lymphoma Increased risk of lymphoma predisposition to leukemia Tags

Haematological malignancies (Version 0.147)

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