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;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 7, OMIM:616553;Dyskeratosis congenita, autosomal dominant 6, OMIM:616553;MDS, AML;Oral and GI squamous cell carcinoma Hematological neoplasm;HP:0004377 28297620 False 3 50;0;50 0.147 False ENSG00000102977 ENSG00000102977 HGNC:25070 ANKRD26 gene ANKRD26 Curated sources;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Thrombocytopenia 2;MDS, AML, CMML;Class: familial predisp to leukaemia (typ AD);Quantitative and qualitative platelet disorders with propensity to myeloid malignancy Hematological neoplasm;HP:0004377 28297620;27881370 False 3 100;0;0 0.147 False ENSG00000107890 ENSG00000107890 HGNC:29186 ATM gene ATM Curated sources;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal T-cell prolymphocytic leukemia, somatic;Ataxia-telangiectasia, OMIM:208900 Hematological neoplasm;HP:0004377 28297620;Cancer Gene Census False 3 100;0;0 0.147 False ENSG00000149311 ENSG00000149311 HGNC:795 BLM gene BLM Curated sources;Expert Review Green Haematological malignancies Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Bloom syndrome, OMIM:210900 Hematological neoplasm;HP:0004377 28297620;Cancer Gene Census False 3 100;0;0 0.147 False ENSG00000197299 ENSG00000197299 HGNC:1058 BRCA1 gene BRCA1 Curated sources;Expert list;Expert Review Green Haematological malignancies Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group S, OMIM:617883 Hematological neoplasm;HP:0004377 28297620 False 3 100;0;0 0.147 False ENSG00000012048 ENSG00000012048 HGNC:1100 BRCA2 gene BRCA2 Curated sources;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group D1, OMIM:605724 Hematological neoplasm;HP:0004377 27881370;28297620;Cancer Gene Census False 3 100;0;0 0.147 False ENSG00000139618 ENSG00000139618 HGNC:1101 BRIP1 gene BRIP1 Curated sources;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group J, OMIM:609054 Hematological neoplasm;HP:0004377 27881370;28297620;Cancer Gene Census False 3 100;0;0 0.147 False ENSG00000136492 ENSG00000136492 HGNC:20473 CBL gene CBL Curated sources;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Class: Ras-opathy;Noonan-like;JMML Hematological neoplasm;HP:0004377 28297620 False 3 100;0;0 0.147 False ENSG00000110395 ENSG00000110395 HGNC:1541 CD27 gene CD27 Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Lymphoproliferative syndrome 2;CD27-deficiency MIM# 615122;hepatosplenomegaly;reduced CD8+ T-cell function;lymphadenopathy;hepatosplenomegaly;fever;increased susceptibility to EBV infection;aplastic anaemia Hematological neoplasm;HP:0004377 22197273;22801960;22365582;25843314;11062504 False 3 100;0;0 0.147 False ENSG00000139193 ENSG00000139193 HGNC:11922 CD70 gene CD70 Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Lymphoproliferative syndrome 3, MIM# 618261 Hematological neoplasm;HP:0004377 28011864;28011863 False 3 100;0;0 0.147 False ENSG00000125726 ENSG00000125726 HGNC:11937 CEBPA gene CEBPA Curated sources;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown No other known cancer risks;Familial AML with mutated CEBPA;AML;Class: familial predisp to leukaemia (typ AD) Hematological neoplasm;HP:0004377 27881370;28297620 False 3 100;0;0 0.147 False ENSG00000245848 ENSG00000245848 HGNC:1833 CTC1 gene CTC1 Curated sources;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal 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 Hematological neoplasm;HP:0004377 27881370;28297620 False 3 100;0;0 0.147 False ENSG00000178971 ENSG00000178971 HGNC:26169 DDX41 gene DDX41 Curated sources;Expert list;Expert Review Green Haematological malignancies Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown DDX41-related AML;SCN3;CML;AML, MDS (late onset), possibly others;No other known cancer risks;Class: familial predisp to leukaemia (typ AD) Hematological neoplasm;HP:0004377 27881370;28297620 False 3 100;0;0 0.147 False ENSG00000183258 ENSG00000183258 HGNC:18674 DKC1 gene DKC1 Curated sources;Expert Review;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 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 Hematological neoplasm;HP:0004377 27881370;28297620 False 3 100;0;0 0.147 False ENSG00000130826 ENSG00000130826 HGNC:2890 DNAJC21 gene DNAJC21 Expert Review Green;Literature;NHS GMS Haematological malignancies Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Bone marrow failure syndrome 3, MONDO:0014887;Bone marrow failure syndrome 3, OMIM:617052 Hematological neoplasm;HP:0004377 29146883;29700810;27346687;28062395 False 3 100;0;0 0.147 False ENSG00000168724 ENSG00000168724 HGNC:27030 DOCK8 gene DOCK8 Curated sources;Expert Review Green Haematological malignancies Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Lymphoma;Class: miscellaneous;HyperIgE syndrome;Squamous cell carcinoma Hematological neoplasm;HP:0004377 False 3 100;0;0 0.147 False ENSG00000107099 ENSG00000107099 HGNC:19191 ELANE gene ELANE Curated sources;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Class: miscellaneous;Severe congenital neutropenia;MDS, AML Hematological neoplasm;HP:0004377 28297620 False 3 100;0;0 0.147 False ENSG00000197561 ENSG00000197561 HGNC:3309 ERCC4 gene ERCC4 Curated sources;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal MDS;Fanconi anemia;AML;Squamous cell carcinoma: oral, GI, vulvar;Class: BM failure FA, (typ AR) Hematological neoplasm;HP:0004377 28297620 False 3 100;0;0 0.147 False ENSG00000175595 ENSG00000175595 HGNC:3436 ERCC6L2 gene ERCC6L2 Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Bone marrow failure syndrome 2, OMIM:615715 Hematological neoplasm;HP:0004377 30936069;31221794 False 3 100;0;0 0.147 False ENSG00000182150 ENSG00000182150 HGNC:26922 ERG gene ERG Expert Review Green;Literature Haematological malignancies Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myelodysplasia syndrome, MONDO:0018881, ERG-related Hematological neoplasm;HP:0004377 38991192 False 3 100;0;0 0.147 False ENSG00000157554 ENSG00000157554 HGNC:3446 ETV6 gene ETV6 Curated sources;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 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 Hematological neoplasm;HP:0004377 27881370;28297620 False 3 100;0;0 0.147 False ENSG00000139083 ENSG00000139083 HGNC:3495 FANCA gene FANCA Curated sources;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal AML, Leukaemia;MDS;leukaemia;AML;Squamous cell carcinoma: oral, GI, vulvar;Class: BM failure FA, (typ AR);Fanconi anaemia A Hematological neoplasm;HP:0004377 28297620;Cancer Gene Census False 3 100;0;0 0.147 False ENSG00000187741 ENSG00000187741 HGNC:3582 FANCB gene FANCB Curated sources;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 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) Hematological neoplasm;HP:0004377 27881370;28297620 False 3 100;0;0 0.147 False ENSG00000181544 ENSG00000181544 HGNC:3583 FANCC gene FANCC Curated sources;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal 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) Hematological neoplasm;HP:0004377 27881370 False 3 100;0;0 0.147 False ENSG00000158169 ENSG00000158169 HGNC:3584 FANCD2 gene FANCD2 Curated sources;Expert Review Green Haematological malignancies Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal 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) Hematological neoplasm;HP:0004377 27881370;28297620;Cancer Gene Census False 3 100;0;0 0.147 False ENSG00000144554 ENSG00000144554 HGNC:3585 FANCE gene FANCE Curated sources;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal 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) Hematological neoplasm;HP:0004377 27881370;28297620;Cancer Gene Census False 3 100;0;0 0.147 False ENSG00000112039 ENSG00000112039 HGNC:3586 FANCF gene FANCF Curated sources;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal 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 Hematological neoplasm;HP:0004377 27881370;28297620;Cancer Gene Census False 3 100;0;0 0.147 False ENSG00000183161 ENSG00000183161 HGNC:3587 FANCG gene FANCG Curated sources;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal 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) Hematological neoplasm;HP:0004377 27881370;28297620;Cancer Gene Census False 3 100;0;0 0.147 False ENSG00000221829 ENSG00000221829 HGNC:3588 FANCI gene FANCI Curated sources;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal 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) Hematological neoplasm;HP:0004377 27881370;28297620 False 3 100;0;0 0.147 False ENSG00000140525 ENSG00000140525 HGNC:25568 FANCL gene FANCL Curated sources;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal 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) Hematological neoplasm;HP:0004377 27881370;28297620 False 3 100;0;0 0.147 False ENSG00000115392 ENSG00000115392 HGNC:20748 FANCM gene FANCM Curated sources;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal FANCM Fanconi-like genomic instability disorder MONDO:0100578 Hematological neoplasm;HP:0004377 27881370;28297620;28837157;31942822;34793962;37608704 False 3 50;0;50 0.147 True ENSG00000187790 ENSG00000187790 HGNC:23168 FAS gene FAS Curated sources;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Autoimmunie lymphoproliferative syndrome;Class: miscellaneous;Lymphoma Hematological neoplasm;HP:0004377 False 3 100;0;0 0.147 False ENSG00000026103 ENSG00000026103 HGNC:11920 FASLG gene FASLG Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal autoimmune lymphoproliferative syndrome MONDO:0017979 Hematological neoplasm;HP:0004377 16627752;17605793;19794494;8787672;22857792;33356695;26334989;25451160 False 3 100;0;0 0.147 False ENSG00000117560 ENSG00000117560 HGNC:11936 GATA1 gene GATA1 Curated sources;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Osteosarcoma, soft tissue sarcomas;Diamond Blackfan Anemia;MDS, AML;Class: BM failure syndrome (typ AR) Hematological neoplasm;HP:0004377 28297620 False 3 100;0;0 0.147 False ENSG00000102145 ENSG00000102145 HGNC:4170 GATA2 gene GATA2 Curated sources;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 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 Hematological neoplasm;HP:0004377 27881370;28297620 False 3 100;0;0 0.147 False ENSG00000179348 ENSG00000179348 HGNC:4171 GBA gene GBA Curated sources;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Class: miscellaneous;Myeloma Lymphoma Hepatocellular carcinoma;Gauchers type 1 Hematological neoplasm;HP:0004377 False 3 100;0;0 0.147 False ENSG00000177628 ENSG00000177628 HGNC:4177 HAX1 gene HAX1 Curated sources;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Class: miscellaneous;MDS, AML Hematological neoplasm;HP:0004377 28297620 False 3 100;0;0 0.147 False ENSG00000143575 ENSG00000143575 HGNC:16915 IKZF1 gene IKZF1 Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Acute lymphoblastic leukaemia (ALL);Immunodeficiency, common variable, 13, OMIM:616873 Hematological neoplasm;HP:0004377 26981933;28096536;29681510 False 3 100;0;0 0.147 False ENSG00000185811 ENSG00000185811 HGNC:13176 ITK gene ITK Curated sources;Expert Review Green Haematological malignancies Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Lymphoproliferative syndrome 1;Hodgkins lymphoma;Class: miscellaneous Hematological neoplasm;HP:0004377 False 3 100;0;0 0.147 False ENSG00000113263 ENSG00000113263 HGNC:6171 LIG4 gene LIG4 Curated sources;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal LIG4 syndrome, OMIM:606593;ALL;Ligase IV syndrome;Lymphoma Hematological neoplasm;HP:0004377 28297620 False 3 100;0;0 0.147 False ENSG00000174405 ENSG00000174405 HGNC:6601 MBD4 gene MBD4 Expert Review;Expert Review Green;Literature;NHS GMS Haematological malignancies Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Tumor predisposition syndrome 2, OMIM:619975;Uveal melanoma;Acute myeloid leukemia;Multi-organ tumour predisposition syndrome;Adenomatous colorectal polyposis;Colorectal cancer Hematological neoplasm;HP:0004377 PMID: 32239153;PMID: 29760383;PMID: 30049810 False 3 100;0;0 0.147 False ENSG00000129071 ENSG00000129071 HGNC:6919 MDM4 gene MDM4 Expert Review Green;Other Haematological malignancies Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted bone marrow failure syndrome 6, MONDO:0030015 Hematological neoplasm;HP:0004377 32300648;33104793;41758987 False 3 50;50;0 0.147 True ENSG00000198625 ENSG00000198625 HGNC:6974 MLH1 gene MLH1 Curated sources;Expert Review Green Haematological malignancies Cancer susceptibility 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 Hematological neoplasm;HP:0004377 27881370;28297620 False 3 100;0;0 0.147 True ENSG00000076242 ENSG00000076242 HGNC:7127 MSH2 gene MSH2 Curated sources;Expert Review Green Haematological malignancies Cancer susceptibility 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 Hematological neoplasm;HP:0004377 27881370;28297620 False 3 100;0;0 0.147 True ENSG00000095002 ENSG00000095002 HGNC:7325 MSH6 gene MSH6 Curated sources;Expert Review Green Haematological malignancies Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal 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 Hematological neoplasm;HP:0004377 27881370;28297620 False 3 100;0;0 0.147 True ENSG00000116062 ENSG00000116062 HGNC:7329 NAF1 gene NAF1 Curated sources;Expert list;Expert Review Green Haematological malignancies Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Oral and GI squamous cell carcinoma;MDS, AML;Dyskeratosis congenita;Class: BM failure syndrome (typ AR) Hematological neoplasm;HP:0004377 28297620;17016622 False 3 100;0;0 0.147 True ENSG00000145414 ENSG00000145414 HGNC:25126 NBN gene NBN Curated sources;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal 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 Hematological neoplasm;HP:0004377 28297620;Cancer Gene Census False 3 100;0;0 0.147 True ENSG00000104320 ENSG00000104320 HGNC:7652 NF1 gene NF1 Curated sources;Expert Review Green Haematological malignancies Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Class: Ras-opathy;JMML, AML;Optic glioma, malignant peripheral nerve sheath tumor;Neurofibromatosis Hematological neoplasm;HP:0004377 28297620 False 3 100;0;0 0.147 True ENSG00000196712 ENSG00000196712 HGNC:7765 NHP2 gene NHP2 Curated sources;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal 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 Hematological neoplasm;HP:0004377 27881370;28297620 False 3 100;0;0 0.147 True ENSG00000145912 ENSG00000145912 HGNC:14377 PALB2 gene PALB2 Curated sources;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal 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) Hematological neoplasm;HP:0004377 27881370;28297620;Cancer Gene Census False 3 100;0;0 0.147 True ENSG00000083093 ENSG00000083093 HGNC:26144 PARN gene PARN Curated sources;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility BOTH monoallelic and biallelic, autosomal or pseudoautosomal Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, OMIM:616371;Dyskeratosis congenita, autosomal recessive 6, OMIM:616353 Hematological neoplasm;HP:0004377 28297620 False 3 100;0;0 0.147 True ENSG00000140694 ENSG00000140694 HGNC:8609 PAX5 gene PAX5 Curated sources;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown No other known cancer risks;ALL, B-ALL;Class: familial predisp to leukaemia (typ AD);PAX5-related familial ALL, Susceptibility to ALL 3 Hematological neoplasm;HP:0004377 27881370;28297620 False 3 100;0;0 0.147 True ENSG00000196092 ENSG00000196092 HGNC:8619 PMS2 gene PMS2 Curated sources;Expert Review Green Haematological malignancies Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal 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 Hematological neoplasm;HP:0004377 27881370;28297620 False 3 100;0;0 0.147 True ENSG00000122512 ENSG00000122512 HGNC:9122 POT1 gene POT1 Expert list;Expert Review;Expert Review Green Haematological malignancies Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multiple myeloma;Tumor predisposition syndrome 3, OMIM:615848;Lymphoid and myeloid cancers Hematological neoplasm;HP:0004377 39845416;33216348;34193977;27528712;29693246;34769003;36467798 False 3 100;0;0 0.147 False ENSG00000128513 ENSG00000128513 HGNC:17284 PRF1 gene PRF1 Curated sources;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal lymphoma;Lymphoma, Leukaemia;various leukaemia;Class: familial predisp to leukaemia (typ AD) Hematological neoplasm;HP:0004377 Cancer Gene Census False 3 100;0;0 0.147 True ENSG00000180644 ENSG00000180644 HGNC:9360 PTPN11 gene PTPN11 Curated sources;Expert Review Green Haematological malignancies Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Class: Ras-opathy;Solid tumors;Noonan syndrome;JMML, ALL Hematological neoplasm;HP:0004377 28297620 False 3 100;0;0 0.147 True ENSG00000179295 ENSG00000179295 HGNC:9644 RAD21 gene RAD21 Expert Review Green;Literature;NHS GMS Haematological malignancies Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Children to Lymphoblastic Leukemia or Lymphoma Hematological neoplasm;HP:0004377 35563565 False 3 100;0;0 0.147 True ENSG00000164754 ENSG00000164754 HGNC:9811 RMRP gene RMRP Curated sources;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Non-hodgkin lymphoma Squamous carcinoma (bcc) Leukemia;Class: miscellaneous;Cartilage-hair hypoplasia syndrome Hematological neoplasm;HP:0004377 False 3 100;0;0 0.147 False ENSG00000269900 ENSG00000269900 HGNC:10031 RPL11 gene RPL11 Curated sources;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Osteosarcoma, soft tissue sarcomas;Diamond Blackfan Anemia;MDS, AML;Class: BM failure syndrome (typ AR) Hematological neoplasm;HP:0004377 28297620 False 3 100;0;0 0.147 True ENSG00000142676 ENSG00000142676 HGNC:10301 RPL15 gene RPL15 Curated sources;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Osteosarcoma, soft tissue sarcomas;Diamond Blackfan Anemia;MDS, AML;Class: BM failure syndrome (typ AR) Hematological neoplasm;HP:0004377 28297620 False 3 100;0;0 0.147 True ENSG00000174748 ENSG00000174748 HGNC:10306 RPL35A gene RPL35A Curated sources;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Osteosarcoma, soft tissue sarcomas;Diamond Blackfan Anemia;MDS, AML;Class: BM failure syndrome (typ AR) Hematological neoplasm;HP:0004377 28297620 False 3 100;0;0 0.147 True ENSG00000182899 ENSG00000182899 HGNC:10345 RPL5 gene RPL5 Curated sources;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Osteosarcoma, soft tissue sarcomas;Diamond Blackfan Anemia;MDS, AML;Class: BM failure syndrome (typ AR) Hematological neoplasm;HP:0004377 28297620 False 3 100;0;0 0.147 False ENSG00000122406 ENSG00000122406 HGNC:10360 RPS10 gene RPS10 Curated sources;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Osteosarcoma, soft tissue sarcomas;Diamond Blackfan Anemia;MDS, AML;Class: BM failure syndrome (typ AR) Hematological neoplasm;HP:0004377 28297620 False 3 100;0;0 0.147 False ENSG00000124614 ENSG00000124614 HGNC:10383 RPS17 gene RPS17 Curated sources;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Osteosarcoma, soft tissue sarcomas;Diamond Blackfan Anemia;MDS, AML;Class: BM failure syndrome (typ AR) Hematological neoplasm;HP:0004377 28297620 False 3 100;0;0 0.147 False ENSG00000182774 ENSG00000182774 HGNC:10397 RPS19 gene RPS19 Curated sources;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Osteosarcoma, soft tissue sarcomas;Diamond Blackfan Anemia;MDS, AML;Class: BM failure syndrome (typ AR) Hematological neoplasm;HP:0004377 28297620 False 3 100;0;0 0.147 False ENSG00000105372 ENSG00000105372 HGNC:10402 RPS24 gene RPS24 Curated sources;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Osteosarcoma, soft tissue sarcomas;Diamond Blackfan Anemia;MDS, AML;Class: BM failure syndrome (typ AR) Hematological neoplasm;HP:0004377 28297620 False 3 100;0;0 0.147 False ENSG00000138326 ENSG00000138326 HGNC:10411 RPS26 gene RPS26 Curated sources;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Osteosarcoma, soft tissue sarcomas;Diamond Blackfan Anemia;MDS, AML;Class: BM failure syndrome (typ AR) Hematological neoplasm;HP:0004377 28297620 False 3 100;0;0 0.147 False ENSG00000197728 ENSG00000197728 HGNC:10414 RPS28 gene RPS28 Curated sources;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Osteosarcoma, soft tissue sarcomas;Diamond Blackfan Anemia;MDS, AML;Class: BM failure syndrome (typ AR) Hematological neoplasm;HP:0004377 28297620 False 3 100;0;0 0.147 False ENSG00000233927 ENSG00000233927 HGNC:10418 RPS7 gene RPS7 Curated sources;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Osteosarcoma, soft tissue sarcomas;Diamond Blackfan Anemia;MDS, AML;Class: BM failure syndrome (typ AR) Hematological neoplasm;HP:0004377 28297620 False 3 100;0;0 0.147 False ENSG00000171863 ENSG00000171863 HGNC:10440 RTEL1 gene RTEL1 Curated sources;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility BOTH monoallelic and biallelic, autosomal or pseudoautosomal Oral and GI squamous cell carcinoma;MDS, AML;Dyskeratosis congenita;Class: BM failure syndrome (typ AR) Hematological neoplasm;HP:0004377 28297620 False 3 100;0;0 0.147 False ENSG00000258366 ENSG00000258366 HGNC:15888 RUNX1 gene RUNX1 Curated sources;Expert Review Green Haematological malignancies Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 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) Hematological neoplasm;HP:0004377 27881370;28297620 False 3 100;0;0 0.147 False ENSG00000159216 ENSG00000159216 HGNC:10471 SAMD9 gene SAMD9 Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility BOTH monoallelic and biallelic, autosomal or pseudoautosomal MIRAGE syndrome, MIM#617053;Tumoral calcinosis, familial, normophosphatemic, MIM#610455;Monosomy 7 myelodysplasia and leukemia syndrome 2, MIM# 619041 Hematological neoplasm;HP:0004377 33237688;32619790;16960814;18094730 False 3 100;0;0 0.147 False ENSG00000205413 ENSG00000205413 HGNC:1348 SAMD9L gene SAMD9L Curated sources;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MDS, AML;Class: miscellaneous;Ataxia Pancytopenia Syndrome Hematological neoplasm;HP:0004377 28297620 False 3 100;0;0 0.147 False ENSG00000177409 ENSG00000177409 HGNC:1349 SBDS gene SBDS Curated sources;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal MDS, AML;Schwachman-Diamond syndrome;MDS;Class: BM failure syndrome (typ AR);AML Hematological neoplasm;HP:0004377 28297620;Cancer Gene Census False 3 100;0;0 0.147 False ENSG00000126524 ENSG00000126524 HGNC:19440 SH2D1A gene SH2D1A Curated sources;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility X-LINKED: hemizygous mutation in males, biallelic mutations in females Lymphoproliferative disease;Class: miscellaneous;Lymphoma Hematological neoplasm;HP:0004377 False 3 100;0;0 0.147 False ENSG00000183918 ENSG00000183918 HGNC:10820 SLX4 gene SLX4 Curated sources;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal 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) Hematological neoplasm;HP:0004377 27881370;28297620 False 3 100;0;0 0.147 False ENSG00000188827 ENSG00000188827 HGNC:23845 STAT3 gene STAT3 Curated sources;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Leukaemia;paediatric large granular lymphocytic leukaemia;Class: familial predisp to leukaemia (typ AD) Hematological neoplasm;HP:0004377 Cancer Gene Census False 3 100;0;0 0.147 False ENSG00000168610 ENSG00000168610 HGNC:11364 STN1 gene STN1 Curated sources;Expert list;Expert Review Green Haematological malignancies Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Oral and GI squamous cell carcinoma;MDS, AML;Dyskeratosis congenita;Class: BM failure syndrome (typ AR) Hematological neoplasm;HP:0004377 28297620 False 3 100;0;0 0.147 False ENSG00000107960 ENSG00000107960 HGNC:26200 TERC gene TERC Curated sources;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 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 Hematological neoplasm;HP:0004377 27881370;28297620 False 3 100;0;0 0.147 False ENSG00000270141 ENSG00000270141 HGNC:11727 TERT gene TERT Curated sources;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility BOTH monoallelic and biallelic, autosomal or pseudoautosomal 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 Hematological neoplasm;HP:0004377 27881370;28297620 False 3 100;0;0 0.147 False ENSG00000164362 ENSG00000164362 HGNC:11730 TINF2 gene TINF2 Curated sources;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 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 Hematological neoplasm;HP:0004377 27881370;28297620 False 3 100;0;0 0.147 False ENSG00000092330 ENSG00000092330 HGNC:11824 TP53 gene TP53 Curated sources;Expert Review Green Haematological malignancies Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 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 Hematological neoplasm;HP:0004377 27881370;28297620;38203823 False 3 100;0;0 0.147 False ENSG00000141510 ENSG00000141510 HGNC:11998 UBE2T gene UBE2T Curated sources;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal MDS;Fanconi anemia;AML;Squamous cell carcinoma: oral, GI, vulvar;Class: BM failure FA, (typ AR) Hematological neoplasm;HP:0004377 28297620;26046368;32646888 False 3 100;0;0 0.147 False ENSG00000077152 ENSG00000077152 HGNC:25009 WAS gene WAS Curated sources;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) lymphoma;MDS, AML, Lymphoma;Class: BM failure syndrome (typ AR);Wiskott Adrich Syndrome;X-linked neutropenia Hematological neoplasm;HP:0004377 28297620;Cancer Gene Census False 3 100;0;0 0.147 False ENSG00000015285 ENSG00000015285 HGNC:12731 WRAP53 gene WRAP53 Curated sources;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal 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 Hematological neoplasm;HP:0004377 27881370;28297620 False 3 100;0;0 0.147 False ENSG00000141499 ENSG00000141499 HGNC:25522 XRCC2 gene XRCC2 Curated sources;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal MDS;Fanconi anemia;AML;Squamous cell carcinoma: oral, GI, vulvar;Class: BM failure FA, (typ AR) Hematological neoplasm;HP:0004377 28297620 False 3 100;0;0 0.147 False ENSG00000196584 ENSG00000196584 HGNC:12829