Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name ACD gene ACD Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Dyskeratosis congenita, autosomal dominant 6, OMIM:616553;Dyskeratosis congenita, autosomal recessive 7, OMIM:616553;MDS, AML;Oral and GI squamous cell carcinoma 28297620 False 3 100;0;0 1.19 False ENSG00000102977 ENSG00000102977 HGNC:25070 ANKRD26 gene ANKRD26 Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Class: familial predisp to leukaemia (typ AD);Thrombocytopenia 2;Quantitative and qualitative platelet disorders with propensity to myeloid malignancy;MDS, AML, CMML 28297620;27881370 False 3 100;0;0 1.19 False ENSG00000107890 ENSG00000107890 HGNC:29186 ATM gene ATM Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Ataxia-telangiectasia, OMIM:208900;T-cell prolymphocytic leukemia, somatic 28297620;Cancer Gene Census False 3 100;0;0 1.19 False ENSG00000149311 ENSG00000149311 HGNC:795 BLM gene BLM Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Bloom syndrome, OMIM:210900;Class: BM failure syndrome (typ AR);Bloom syndrome;leukaemia;lymphoma;skin squamous cell;other tumour types;Lymphoma;ALL;MDS;AML;Leukaemia;Carcinomas 28297620;Cancer Gene Census False 3 100;0;0 1.19 False ENSG00000197299 ENSG00000197299 HGNC:1058 BRCA1 gene BRCA1 Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group S, OMIM:617883 28297620 False 3 100;0;0 1.19 False ENSG00000012048 ENSG00000012048 HGNC:1100 BRCA2 gene BRCA2 Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group D1, OMIM:605724 27881370;Cancer Gene Census;28297620 False 3 100;0;0 1.19 False ENSG00000139618 ENSG00000139618 HGNC:1101 BRIP1 gene BRIP1 Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group J, OMIM:609054 27881370;28297620;Cancer Gene Census False 3 100;0;0 1.19 False ENSG00000136492 ENSG00000136492 HGNC:20473 CBL gene CBL Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Class: Ras-opathy;Noonan-like;JMML 28297620 False 3 100;0;0 1.19 False ENSG00000110395 ENSG00000110395 HGNC:1541 CEBPA gene CEBPA Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Class: familial predisp to leukaemia (typ AD);Familial AML with mutated CEBPA;AML;No other known cancer risks 27881370;28297620 False 3 100;0;0 1.19 False ENSG00000245848 ENSG00000245848 HGNC:1833 CTC1 gene CTC1 Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Class: BM failure FA, (typ AR);Dyskeratosis congenita;MDS;AML;Bone marrow failure, macrocytosis;Skin, head and neck, and anogenital squamous cell cancers, Oral and GI squamous cell carcinoma 27881370; 28297620 False 3 100;0;0 1.19 False ENSG00000178971 ENSG00000178971 HGNC:26169 DDX41 gene DDX41 Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Class: familial predisp to leukaemia (typ AD);DDX41-related AML; SCN3;AML, MDS (late onset), possibly others; CML;No other known cancer risks 27881370;28297620 False 3 100;0;0 1.19 False ENSG00000183258 ENSG00000183258 HGNC:18674 DKC1 gene DKC1 Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Class: BM failure syndrome (typ AR);Dyskeratosis congenita;MDS, AML;Bone marrow failure, macrocytosis;Skin, head and neck, and anogenital squamous cell cancers, Oral and GI squamous cell carcinoma 27881370;28297620 False 3 100;0;0 1.19 False ENSG00000130826 ENSG00000130826 HGNC:2890 DOCK8 gene DOCK8 Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Class: miscellaneous;HyperIgE syndrome;Squamous cell carcinoma;Lymphoma False 3 100;0;0 1.19 False ENSG00000107099 ENSG00000107099 HGNC:19191 ELANE gene ELANE Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Class: miscellaneous;Severe congenital neutropenia;MDS, AML 28297620 False 3 100;0;0 1.19 False ENSG00000197561 ENSG00000197561 HGNC:3309 ERCC4 gene ERCC4 Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Class: BM failure FA, (typ AR);Fanconi anemia;MDS;AML;Squamous cell carcinoma: oral, GI, vulvar 28297620 False 3 100;0;0 1.19 False ENSG00000175595 ENSG00000175595 HGNC:3436 ETV6 gene ETV6 Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Class: familial predisp to leukaemia (typ AD);Thrombocytopenia 5; Quantitative and qualitative platelet disorders with propensity to myeloid malignancy;ALL, MDS, AML, CMML;Thrombocytopenia;No other known cancer risks 27881370;28297620 False 3 100;0;0 1.19 False ENSG00000139083 ENSG00000139083 HGNC:3495 FANCA gene FANCA Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Class: BM failure FA, (typ AR);AML; leukaemia; Fanconi anaemia A;MDS;AML, Leukaemia;Squamous cell carcinoma: oral, GI, vulvar 28297620;Cancer Gene Census False 3 100;0;0 1.19 False ENSG00000187741 ENSG00000187741 HGNC:3582 FANCB gene FANCB Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Class: BM failure FA, (typ AR);Fanconi anemia;MDS;AML;Bone marrow failure;Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar 27881370;28297620 False 3 100;0;0 1.19 False ENSG00000181544 ENSG00000181544 HGNC:3583 FANCC gene FANCC Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Class: BM failure FA, (typ AR);Fanconi anemia;AML; leukaemia; Fanconi anaemia C;MDS;AML, Leukaemia;Bone marrow failure;Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar 27881370 False 3 100;0;0 1.19 False ENSG00000158169 ENSG00000158169 HGNC:3584 FANCD2 gene FANCD2 Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Class: BM failure FA, (typ AR);AML; leukaemia; Fanconi anaemia D2;MDS;AML, Acute myeloid leukaemia (AML);Bone marrow failure;Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar 27881370;28297620;Cancer Gene Census False 3 100;0;0 1.19 False ENSG00000144554 ENSG00000144554 HGNC:3585 FANCE gene FANCE Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Class: BM failure FA, (typ AR);AML; leukaemia; Fanconi anaemia E;MDS;Bone marrow failure;Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar 27881370;28297620;Cancer Gene Census False 3 100;0;0 1.19 False ENSG00000112039 ENSG00000112039 HGNC:3586 FANCF gene FANCF Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Class: BM failure FA, (typ AR);AML; leukaemia; Fanconi anaemia F;MDS;AML, Leukaemia;Bone marrow failure;Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar 27881370;28297620;Cancer Gene Census False 3 100;0;0 1.19 False ENSG00000183161 ENSG00000183161 HGNC:3587 FANCG gene FANCG Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Class: BM failure FA, (typ AR);AML; leukaemia; Fanconi anaemia G;MDS;AML, Leukaemia;Bone marrow failure;Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar 27881370;28297620;Cancer Gene Census False 3 100;0;0 1.19 False ENSG00000221829 ENSG00000221829 HGNC:3588 FANCI gene FANCI Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Class: BM failure FA, (typ AR);Fanconi anemia;MDS;AML;Bone marrow failure;Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar 27881370;28297620 False 3 100;0;0 1.19 False ENSG00000140525 ENSG00000140525 HGNC:25568 FANCL gene FANCL Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Class: BM failure FA, (typ AR);Fanconi anemia;MDS;AML;Bone marrow failure;Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar 27881370;28297620 False 3 100;0;0 1.19 False ENSG00000115392 ENSG00000115392 HGNC:20748 FAS gene FAS Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Class: miscellaneous;Autoimmunie lymphoproliferative syndrome;Lymphoma False 3 100;0;0 1.19 False ENSG00000026103 ENSG00000026103 HGNC:11920 GATA1 gene GATA1 Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Class: BM failure syndrome (typ AR);Diamond Blackfan Anemia;MDS, AML;Osteosarcoma, soft tissue sarcomas 28297620 False 3 100;0;0 1.19 False ENSG00000102145 ENSG00000102145 HGNC:4170 GATA2 gene GATA2 Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Class: familial predisp to leukaemia (typ AD);Familial AML with mutated GATA2, GATA2-spectrum disorders;MDS, AML, CMML;Monocytopenia and mycobacterial infection syndrome, Emberger syndrome, immune deficiencies;No other known cancer risks 27881370;28297620 False 3 100;0;0 1.19 False ENSG00000179348 ENSG00000179348 HGNC:4171 GBA gene GBA Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Class: miscellaneous;Gauchers type 1;Myeloma Lymphoma Hepatocellular carcinoma False 3 100;0;0 1.19 False ENSG00000177628 ENSG00000177628 HGNC:4177 HAX1 gene HAX1 Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Class: miscellaneous;MDS, AML 28297620 False 3 100;0;0 1.19 False ENSG00000143575 ENSG00000143575 HGNC:16915 ITK gene ITK Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Class: miscellaneous;Lymphoproliferative syndrome 1;Hodgkins lymphoma False 3 100;0;0 1.19 False ENSG00000113263 ENSG00000113263 HGNC:6171 LIG4 gene LIG4 Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes BIALLELIC, autosomal or pseudoautosomal LIG4 syndrome, OMIM:606593;Class: miscellaneous;Ligase IV syndrome;Lymphoma;ALL 28297620 False 3 100;0;0 1.19 False ENSG00000174405 ENSG00000174405 HGNC:6601 MAD2L2 gene MAD2L2 Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Class: BM failure FA, (typ AR);Fanconi anemia;MDS;AML;Squamous cell carcinoma: oral, GI, vulvar 28297620 False 3 100;0;0 1.19 False ENSG00000116670 ENSG00000116670 HGNC:6764 MLH1 gene MLH1 Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Class: Familial cancer syndrome;Constitutional mismatch repair deficiency;Lymphoma, ALL, MDS, AML;Brain tumors, gastrointestinal cancers, GI (colon), ovarian, uterine, CNS, other 27881370;28297620 False 3 100;0;0 1.19 False ENSG00000076242 ENSG00000076242 HGNC:7127 MSH2 gene MSH2 Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Class: Familial cancer syndrome;Constitutional mismatch repair deficiency;Lymphoma, ALL, MDS, AML;Brain tumors, gastrointestinal cancers, GI (colon), ovarian, uterine, CNS, other 27881370;28297620 False 3 100;0;0 1.19 False ENSG00000095002 ENSG00000095002 HGNC:7325 MSH6 gene MSH6 Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Class: Familial cancer syndrome;Constitutional mismatch repair deficiency syndrome (Lynch syndrome);Lymphoma, ALL, MDS, AML;Brain tumors, gastrointestinal cancers, GI (colon), ovarian, uterine, CNS, other 27881370;28297620 False 3 100;0;0 1.19 False ENSG00000116062 ENSG00000116062 HGNC:7329 NAF1 gene NAF1 Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Class: BM failure syndrome (typ AR);Dyskeratosis congenita;MDS, AML;Oral and GI squamous cell carcinoma 28297620;17016622 False 3 100;0;0 1.19 False ENSG00000145414 ENSG00000145414 HGNC:25126 NBN gene NBN Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Class: BM failure syndrome (typ AR);NHL (non-Hodgkin lymphoma); glioma; medulloblastoma; rhabdomyosarcoma;Nijmegen breakage syndrome;Non-Hodgkin lymphoma and ALL (primarily T cell), Lymphoma;Rare reports of brain tumors, rhabdomyosarcoma 28297620;Cancer Gene Census False 3 100;0;0 1.19 False ENSG00000104320 ENSG00000104320 HGNC:7652 NF1 gene NF1 Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Class: Ras-opathy;Neurofibromatosis;JMML, AML;Optic glioma, malignant peripheral nerve sheath tumor 28297620 False 3 100;0;0 1.19 False ENSG00000196712 ENSG00000196712 HGNC:7765 NHP2 gene NHP2 Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Class: BM failure syndrome (typ AR);Dyskeratosis congenita;MDS, AML;Bone marrow failure, macrocytosis;Skin, head and neck, and anogenital squamous cell cancers, Oral and GI squamous cell carcinoma 27881370; 28297620 False 3 100;0;0 1.19 False ENSG00000145912 ENSG00000145912 HGNC:14377 NOP10 gene NOP10 Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Class: BM failure syndrome (typ AR);Dyskeratosis congenita;MDS, AML;Oral and GI squamous cell carcinoma 28297620 False 3 100;0;0 1.19 False ENSG00000182117 ENSG00000182117 HGNC:14378 PALB2 gene PALB2 Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Class: BM failure FA, (typ AR);Fanconi anemia;MDS;AML;Bone marrow failure;Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar 27881370;28297620;Cancer Gene Census False 3 100;0;0 1.19 False ENSG00000083093 ENSG00000083093 HGNC:26144 PARN gene PARN Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 6, OMIM:616353;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, OMIM:616371 28297620 False 3 100;0;0 1.19 False ENSG00000140694 ENSG00000140694 HGNC:8609 PAX5 gene PAX5 Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Class: familial predisp to leukaemia (typ AD);PAX5-related familial ALL, Susceptibility to ALL 3;ALL, B-ALL;No other known cancer risks 27881370;28297620 False 3 100;0;0 1.19 False ENSG00000196092 ENSG00000196092 HGNC:8619 PMS2 gene PMS2 Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Class: Familial cancer syndrome;Constitutional mismatch repair deficiency syndrome;Lymphoma, ALL, MDS, AML;Brain tumors, gastrointestinal cancers, GI (colon), ovarian, uterine, CNS, other 27881370; 28297620 False 3 100;0;0 1.19 False ENSG00000122512 ENSG00000122512 HGNC:9122 PRF1 gene PRF1 Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Class: familial predisp to leukaemia (typ AD);various leukaemia; lymphoma;Lymphoma, Leukaemia Cancer Gene Census False 3 100;0;0 1.19 False ENSG00000180644 ENSG00000180644 HGNC:9360 PTPN11 gene PTPN11 Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Class: Ras-opathy;Noonan syndrome;JMML, ALL;Solid tumors 28297620 False 3 100;0;0 1.19 False ENSG00000179295 ENSG00000179295 HGNC:9644 RPL11 gene RPL11 Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Class: BM failure syndrome (typ AR);Diamond Blackfan Anemia;MDS, AML;Osteosarcoma, soft tissue sarcomas 28297620 False 3 100;0;0 1.19 False ENSG00000142676 ENSG00000142676 HGNC:10301 RPL15 gene RPL15 Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Class: BM failure syndrome (typ AR);Diamond Blackfan Anemia;MDS, AML;Osteosarcoma, soft tissue sarcomas 28297620 False 3 100;0;0 1.19 False ENSG00000174748 ENSG00000174748 HGNC:10306 RPL23 gene RPL23 Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Class: BM failure syndrome (typ AR);Diamond Blackfan Anemia;MDS, AML;Osteosarcoma, soft tissue sarcomas 28297620 False 3 100;0;0 1.19 False ENSG00000125691 ENSG00000125691 HGNC:10316 RPL26 gene RPL26 Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Class: BM failure syndrome (typ AR);Diamond Blackfan Anemia;MDS, AML;Osteosarcoma, soft tissue sarcomas 28297620 False 3 100;0;0 1.19 False ENSG00000161970 ENSG00000161970 HGNC:10327 RPL27 gene RPL27 Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Class: BM failure syndrome (typ AR);Diamond Blackfan Anemia;MDS, AML;Osteosarcoma, soft tissue sarcomas 28297620 False 3 100;0;0 1.19 False ENSG00000131469 ENSG00000131469 HGNC:10328 RPL31 gene RPL31 Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Class: BM failure syndrome (typ AR);Diamond Blackfan Anemia;MDS, AML;Osteosarcoma, soft tissue sarcomas 28297620 False 3 100;0;0 1.19 False ENSG00000071082 ENSG00000071082 HGNC:10334 RPL35A gene RPL35A Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Class: BM failure syndrome (typ AR);Diamond Blackfan Anemia;MDS, AML;Osteosarcoma, soft tissue sarcomas 28297620 False 3 100;0;0 1.19 False ENSG00000182899 ENSG00000182899 HGNC:10345 RPL36 gene RPL36 Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Class: BM failure syndrome (typ AR);Diamond Blackfan Anemia;MDS, AML;Osteosarcoma, soft tissue sarcomas 28297620 False 3 100;0;0 1.19 False ENSG00000130255 ENSG00000130255 HGNC:13631 RPL5 gene RPL5 Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Class: BM failure syndrome (typ AR);Diamond Blackfan Anemia;MDS, AML;Osteosarcoma, soft tissue sarcomas 28297620 False 3 100;0;0 1.19 False ENSG00000122406 ENSG00000122406 HGNC:10360 RPS10 gene RPS10 Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Class: BM failure syndrome (typ AR);Diamond Blackfan Anemia;MDS, AML;Osteosarcoma, soft tissue sarcomas 28297620 False 3 100;0;0 1.19 False ENSG00000124614 ENSG00000124614 HGNC:10383 RPS15 gene RPS15 Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anemia;Chronic lymphocytic leukemia 19061985;28297620;26466571;26675346;30181176;34251413 False 3 50;0;50 1.19 False ENSG00000115268 ENSG00000115268 HGNC:10388 RPS17 gene RPS17 Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Class: BM failure syndrome (typ AR);Diamond Blackfan Anemia;MDS, AML;Osteosarcoma, soft tissue sarcomas 28297620 False 3 100;0;0 1.19 False ENSG00000182774 ENSG00000182774 HGNC:10397 RPS19 gene RPS19 Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Class: BM failure syndrome (typ AR);Diamond Blackfan Anemia;MDS, AML;Osteosarcoma, soft tissue sarcomas 28297620 False 3 100;0;0 1.19 False ENSG00000105372 ENSG00000105372 HGNC:10402 RPS24 gene RPS24 Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Class: BM failure syndrome (typ AR);Diamond Blackfan Anemia;MDS, AML;Osteosarcoma, soft tissue sarcomas 28297620 False 3 100;0;0 1.19 False ENSG00000138326 ENSG00000138326 HGNC:10411 RPS26 gene RPS26 Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Class: BM failure syndrome (typ AR);Diamond Blackfan Anemia;MDS, AML;Osteosarcoma, soft tissue sarcomas 28297620 False 3 100;0;0 1.19 False ENSG00000197728 ENSG00000197728 HGNC:10414 RPS27 gene RPS27 Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Diamond-Blackfan anemia 17, OMIM:617409;Class: BM failure syndrome (typ AR);MDS, AML;Osteosarcoma, soft tissue sarcomas 28297620 False 3 100;0;0 1.19 False ENSG00000177954 ENSG00000177954 HGNC:10416 RPS27A gene RPS27A Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Class: BM failure syndrome (typ AR);Diamond Blackfan Anemia;MDS, AML;Osteosarcoma, soft tissue sarcomas 28297620;24680683;26942564 False 3 100;0;0 1.19 False ENSG00000143947 ENSG00000143947 HGNC:10417 RPS28 gene RPS28 Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Class: BM failure syndrome (typ AR);Diamond Blackfan Anemia;MDS, AML;Osteosarcoma, soft tissue sarcomas 28297620 False 3 100;0;0 1.19 False ENSG00000233927 ENSG00000233927 HGNC:10418 RPS29 gene RPS29 Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Class: BM failure syndrome (typ AR);Diamond Blackfan Anemia;MDS, AML;Osteosarcoma, soft tissue sarcomas 28297620 False 3 100;0;0 1.19 False ENSG00000213741 ENSG00000213741 HGNC:10419 RPS7 gene RPS7 Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Class: BM failure syndrome (typ AR);Diamond Blackfan Anemia;MDS, AML;Osteosarcoma, soft tissue sarcomas 28297620 False 3 100;0;0 1.19 False ENSG00000171863 ENSG00000171863 HGNC:10440 RTEL1 gene RTEL1 Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Class: BM failure syndrome (typ AR);Dyskeratosis congenita;MDS, AML;Oral and GI squamous cell carcinoma 28297620 False 3 100;0;0 1.19 False ENSG00000258366 ENSG00000258366 HGNC:15888 RUNX1 gene RUNX1 Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Class: familial predisp to leukaemia (typ AD);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 27881370; 28297620 False 3 100;0;0 1.19 False ENSG00000159216 ENSG00000159216 HGNC:10471 SAMD9L gene SAMD9L Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Class: miscellaneous;Ataxia Pancytopenia Syndrome;MDS, AML 28297620 False 3 100;0;0 1.19 False ENSG00000177409 ENSG00000177409 HGNC:1349 SBDS gene SBDS Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Class: BM failure syndrome (typ AR);AML; MDS; Schwachman-Diamond syndrome;MDS, AML 28297620;Cancer Gene Census False 3 100;0;0 1.19 False ENSG00000126524 ENSG00000126524 HGNC:19440 SH2D1A gene SH2D1A Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females Class: miscellaneous;Lymphoproliferative disease;Lymphoma False 3 100;0;0 1.19 False ENSG00000183918 ENSG00000183918 HGNC:10820 SLX4 gene SLX4 Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Class: BM failure FA, (typ AR);Fanconi anemia;MDS;AML;Bone marrow failure;Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar 27881370; 28297620 False 3 100;0;0 1.19 False ENSG00000188827 ENSG00000188827 HGNC:23845 STAT3 gene STAT3 Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Class: familial predisp to leukaemia (typ AD);paediatric large granular lymphocytic leukaemia;Leukaemia Cancer Gene Census False 3 100;0;0 1.19 False ENSG00000168610 ENSG00000168610 HGNC:11364 STN1 gene STN1 Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Class: BM failure syndrome (typ AR);Dyskeratosis congenita;MDS, AML;Oral and GI squamous cell carcinoma 28297620 False 3 100;0;0 1.19 False ENSG00000107960 ENSG00000107960 HGNC:26200 TERT gene TERT Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Leukemia, acute myeloid}, OMIM:601626;Dyskeratosis congenita, autosomal dominant 2, OMIM:613989;Dyskeratosis congenita, autosomal recessive 4, OMIM:613989;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM:614742 27881370; 28297620 False 3 100;0;0 1.19 False ENSG00000164362 ENSG00000164362 HGNC:11730 TINF2 gene TINF2 Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Class: BM failure syndrome (typ AR);Dyskeratosis congenita;MDS, AML;Bone marrow failure, macrocytosis;Skin, head and neck, and anogenital squamous cell cancers, Oral and GI squamous cell carcinoma 27881370; 28297620 False 3 100;0;0 1.19 False ENSG00000092330 ENSG00000092330 HGNC:11824 TP53 gene TP53 Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Class: Familial cancer syndrome;Li-Fraumeni syndrome;ALL, AML, MDS;Adrenal, breast, brain, and lung sarcoma, gastrointestinal cancers, Breast cancer, osteosarcoma, soft tissue sarcomas, brain tumors, adrenocortical carcinoma 27881370; 28297620 False 3 100;0;0 1.19 False ENSG00000141510 ENSG00000141510 HGNC:11998 TSR2 gene TSR2 Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Class: BM failure syndrome (typ AR);Diamond Blackfan Anemia;MDS, AML, Leukemia risk not well defined;Osteosarcoma, soft tissue sarcomas 28297620 False 3 100;0;0 1.19 False ENSG00000158526 ENSG00000158526 HGNC:25455 UBE2T gene UBE2T Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Class: BM failure FA, (typ AR);Fanconi anemia;MDS;AML;Squamous cell carcinoma: oral, GI, vulvar 28297620 False 3 100;0;0 1.19 False ENSG00000077152 ENSG00000077152 HGNC:25009 WAS gene WAS Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Class: BM failure syndrome (typ AR);X-linked neutropenia;Wiskott Adrich Syndrome;lymphoma;MDS, AML, Lymphoma 28297620;Cancer Gene Census False 3 100;0;0 1.19 False ENSG00000015285 ENSG00000015285 HGNC:12731 WRAP53 gene WRAP53 Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Class: BM failure syndrome (typ AR);Dyskeratosis congenita;MDS, AML;Bone marrow failure, macrocytosis;Skin, head and neck, and anogenital squamous cell cancers, Oral and GI squamous cell carcinoma 27881370; 28297620 False 3 100;0;0 1.19 False ENSG00000141499 ENSG00000141499 HGNC:25522 XRCC2 gene XRCC2 Curated sources;Expert Review Green Haematological malignancies for rare disease Tumour syndromes Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Class: BM failure FA, (typ AR);Fanconi anemia;MDS;AML;Squamous cell carcinoma: oral, GI, vulvar 28297620 False 3 100;0;0 1.19 False ENSG00000196584 ENSG00000196584 HGNC:12829 FANCM gene FANCM Curated sources;Expert Review Amber Haematological malignancies for rare disease Tumour syndromes Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Class: BM failure FA, (typ AR);Fanconi anemia;MDS;AML;Bone marrow failure;Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar 27881370;28297620 False 2 100;0;0 1.19 False ENSG00000187790 ENSG00000187790 HGNC:23168 RAD51 gene RAD51 Curated sources;Expert Review Amber Haematological malignancies for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Fanconi anemia, complementation group R, OMIM:617244 26681308;26253028;30907510 False 2 67;33;0 1.19 False ENSG00000051180 ENSG00000051180 HGNC:9817 RAD51C gene RAD51C Curated sources;Expert Review Amber Haematological malignancies for rare disease Tumour syndromes Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Class: BM failure FA, (typ AR);Fanconi anemia;MDS;AML;Bone marrow failure;Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar 27881370; 28297620 False 2 100;0;0 1.19 False ENSG00000108384 ENSG00000108384 HGNC:9820 SH2B3 gene SH2B3 Curated sources;Expert Review Amber Haematological malignancies for rare disease Tumour syndromes Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Class: familial predisp to leukaemia (typ AD);SH2B3-related familial ALL;ALL;Autoimmunity;No other known cancer risks 27881370;23908464 False 2 100;0;0 1.19 False ENSG00000111252 ENSG00000111252 HGNC:29605 RMRP gene RMRP Curated sources;Expert Review Red Haematological malignancies for rare disease Tumour syndromes Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Class: miscellaneous;Cartilage-hair hypoplasia syndrome;Non-hodgkin lymphoma Squamous carcinoma (bcc) Leukemia False 1 100;0;0 1.19 False ENSG00000269900 ENSG00000269900 HGNC:10031 TERC gene TERC Curated sources;Expert Review Red Haematological malignancies for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Class: BM failure syndrome (typ AR);Dyskeratosis congenita;MDS, AML;Bone marrow failure, macrocytosis;Skin, head and neck, and anogenital squamous cell cancers, Oral and GI squamous cell carcinoma 27881370; 28297620 False 1 100;0;0 1.19 False ENSG00000270141 ENSG00000270141 HGNC:11727