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 ADA gene ADA Expert Review Amber;Literature Haematological malignancies Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency due to ADA deficiency, OMIM: 102700 Hematological neoplasm;HP:0004377 32098966 False 2 0;0;0 0.147 False ENSG00000196839 ENSG00000196839 HGNC:186 DHX34 gene DHX34 Expert Review Amber;Literature Haematological malignancies Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted acute myeloid leukemia;myelodysplastic syndrome Hematological neoplasm;HP:0004377 32098966 False 2 0;0;0 0.147 False ENSG00000134815 ENSG00000134815 HGNC:16719 DNAH9 gene DNAH9 Expert Review Amber;Literature Haematological malignancies Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal MDS/AML;inherited bone marrow failure (IBMF) Hematological neoplasm;HP:0004377 32098966 False 2 0;0;0 0.147 False ENSG00000007174 ENSG00000007174 HGNC:2953 HAVCR2 gene HAVCR2 Expert list;Expert Review;Expert Review Amber;Literature Haematological malignancies Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal subcutaneous panniculitis-like T-cell lymphoma, MONDO:0019475;T-cell lymphoma, subcutaneous panniculitis-like, OMIM:618398 Hematological neoplasm;HP:0004377 30792187;32005988;30374066;32285995 False 2 0;0;0 0.147 False Other ENSG00000135077 ENSG00000135077 HGNC:18437 KDM1A gene KDM1A Expert list;Expert Review Amber Haematological malignancies Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multiple myeloma Hematological neoplasm;HP:0004377 39845416;29559475 False 2 0;0;0 0.147 False ENSG00000004487 ENSG00000004487 HGNC:29079 NAPRT gene NAPRT Expert Review Amber;Literature Haematological malignancies Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) MDS/AML;inherited bone marrow failure series Hematological neoplasm;HP:0004377 32098966 False 2 0;0;0 0.147 False ENSG00000147813 ENSG00000147813 HGNC:30450 NOP10 gene NOP10 Curated sources;Expert Review Amber;Victorian Clinical Genetics Services 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 2 0;100;0 0.147 False ENSG00000182117 ENSG00000182117 HGNC:14378 PTPN13 gene PTPN13 Expert Review Amber;Literature Haematological malignancies Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal bone marrow failure and acute lymphoblastic leukemia Hematological neoplasm;HP:0004377 PMID: 35643866 False 2 0;0;0 0.147 False ENSG00000163629 ENSG00000163629 HGNC:9646 RAD51 gene RAD51 Curated sources;Expert Review Amber;Expert Review Green;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Fanconi anemia, complementation group R, OMIM:617244 Hematological neoplasm;HP:0004377 26681308;26253028;30907510;36698515 False 2 50;50;0 0.147 False ENSG00000051180 ENSG00000051180 HGNC:9817 RAD51C gene RAD51C Curated sources;Expert Review Amber;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 2 100;0;0 0.147 False ENSG00000108384 ENSG00000108384 HGNC:9820 RPL27 gene RPL27 Curated sources;Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Osteosarcoma, soft tissue sarcomas;Diamond-Blackfan anaemia 16, MIM# 617408;MDS, AML;Class: BM failure syndrome (typ AR) Hematological neoplasm;HP:0004377 28297620;38988374 False 2 0;100;0 0.147 True ENSG00000131469 ENSG00000131469 HGNC:10328 RPL31 gene RPL31 Curated sources;Expert Review Amber;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;25042156;25424902 False 2 0;100;0 0.147 False ENSG00000071082 ENSG00000071082 HGNC:10334 RPL36 gene RPL36 Curated sources;Expert Review Amber 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);Diamond-Blackfan anemia MONDO:0015253 Hematological neoplasm;HP:0004377 28297620;19061985;39923319 False 2 0;100;0 0.147 True ENSG00000130255 ENSG00000130255 HGNC:13631 RPL8 gene RPL8 Expert Review Amber;Literature Haematological malignancies Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia MONDO:0015253 Hematological neoplasm;HP:0004377 25424902;34961992 False 2 0;100;0 0.147 False ENSG00000161016 ENSG00000161016 HGNC:10368 RPL9 gene RPL9 Expert list;Expert Review Amber Haematological malignancies Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond Blackfan anaemia Hematological neoplasm;HP:0004377 29114930;20116044;31799629 False 2 0;50;50 0.147 False ENSG00000163682 ENSG00000163682 HGNC:10369 RPS20 gene RPS20 Expert Review Amber;Literature Haematological malignancies Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond Blackfan anaemia Hematological neoplasm;HP:0004377 32790018 False 2 0;100;0 0.147 False Other ENSG00000008988 ENSG00000008988 HGNC:10405 RPS29 gene RPS29 Curated sources;Expert Review Amber;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 2 0;100;0 0.147 True ENSG00000213741 ENSG00000213741 HGNC:10419 SH2B3 gene SH2B3 Curated sources;Expert Review Amber;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility BOTH monoallelic and biallelic, autosomal or pseudoautosomal Autoimmunity;No other known cancer risks;Class: familial predisp to leukaemia (typ AD);SH2B3-related familial ALL;ALL Hematological neoplasm;HP:0004377 26457647;23908464;31102422;31173385;23908464;27913496;39316992;27881370;28484264;37206266;38152053 False 2 100;0;0 0.147 True ENSG00000111252 ENSG00000111252 HGNC:29605 SRP54 gene SRP54 Expert Review Amber;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neutropaenia, severe congenital, 8, autosomal dominant, MIM# 618752 Hematological neoplasm;HP:0004377 29914977;28972538 False 2 50;50;0 0.147 True ENSG00000100883 ENSG00000100883 HGNC:11301 SRP72 gene SRP72 Expert Review Amber;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bone marrow failure syndrome 1, MIM# 614675 Hematological neoplasm;HP:0004377 22541560;31254415;40922878;37176611;41472573;40510848;41142505 False 2 0;100;0 0.147 False ENSG00000174780 ENSG00000174780 HGNC:11303 STX11 gene STX11 Expert list;Expert Review Amber;Expert Review Green;Literature;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Hemophagocytic lymphohistiocytosis, familial, 4 603552 Hematological neoplasm;HP:0004377 26176172;16582076 False 2 50;50;0 0.147 False ENSG00000135604 ENSG00000135604 HGNC:11429 STXBP2 gene STXBP2 Expert list;Expert Review Amber;Expert Review Green;Literature;Victorian Clinical Genetics Services Haematological malignancies Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal risk of lymphoma;predisposition to acute lymphoblastic leukemia (ALL);Hemophagocytic lymphohistiocytosis, familial, 5 613101 Hematological neoplasm;HP:0004377 40262927;23100279 False 2 50;50;0 0.147 False ENSG00000076944 ENSG00000076944 HGNC:11445 TCF3 gene TCF3 Expert Review Amber;Literature Haematological malignancies Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted B-cell acute lymphoblastic leukemia, MONDO:0004947 Hematological neoplasm;HP:0004377 36576946;37129918 False 2 0;0;0 0.147 False ENSG00000071564 ENSG00000071564 HGNC:11633