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 EXT1 gene EXT1 Expert Review Green;NHS GMS Sarcoma susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Chondrosarcoma, OMIM:215300;Chondrosarcoma (disease), MONDO:0008977 23770606;29529714;10441575 False 3 100;0;0 1.82 False ENSG00000182197 ENSG00000182197 HGNC:3512 EXT2 gene EXT2 Expert Review Green;NHS GMS;Other Sarcoma susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Exostoses, multiple, type 2, OMIM:133701;Exostoses, multiple, type 2, MONDO:0007586 27636706;7726168;29529714;23770606 False 3 100;0;0 1.82 False ENSG00000151348 ENSG00000151348 HGNC:3513 MTAP gene MTAP Expert list;Expert Review Green;NHS GMS Sarcoma susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diaphyseal medullary stenosis with malignant fibrous histiocytoma, OMIM:112250;Diaphyseal medullary stenosis-bone malignancy syndrome, MONDO:0007205 19197386;22464254 False 3 100;0;0 1.82 False ENSG00000099810 ENSG00000099810 HGNC:7413 NF1 gene NF1 Expert Review Green;Expert Review Red;Literature;NHS GMS Sarcoma susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurofibromatosis, type 1, OMIM:162200;Neurofibromatosis type 1, MONDO:0018975 False 3 100;0;0 1.82 False ENSG00000196712 ENSG00000196712 HGNC:7765 RECQL4 gene RECQL4 Expert list;Expert Review Green;NHS GMS Sarcoma susceptibility Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal RAPADILINO syndrome, OMIM:266280;Rothmund-Thomson syndrome, type 2, OMIM:268400;Osteosarcoma (disease), MONDO:0009807 12734318;17264332;12612652;28338660 False 3 100;0;0 1.82 False ENSG00000160957 ENSG00000160957 HGNC:9949 SQSTM1 gene SQSTM1 Expert list;Expert Review Green;NHS GMS Sarcoma susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Paget disease of bone 3, OMIM:167250;Paget disease of bone 3, MONDO:0008176;Osteosarcoma (disease), MONDO:0009807 21437228;11473345;9345096;12374763 False 3 100;0;0 1.82 False ENSG00000161011 ENSG00000161011 HGNC:11280 T gene T Expert list;Expert Review Green;NHS GMS Sarcoma susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Chordoma (disease), MONDO:0008978 23064415;19801981;34837714 False 3 100;0;0 1.82 False ENSG00000164458 ENSG00000164458 HGNC:11515 TP53 gene TP53 Expert Review Green;NHS GMS Sarcoma susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Li-Fraumeni syndrome, OMIM:151623;Solitary Fibrous Tumour;Sarcoma, MONDO:0005089 27050224;28338660;31529158 False 3 100;0;0 1.82 False ENSG00000141510 ENSG00000141510 HGNC:11998 APC gene APC Expert list;Expert Review Amber;NHS GMS Sarcoma susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Gardner syndrome, OMIM:175100;Sarcoma, MONDO:0005089 27498913 False 2 0;100;0 1.82 False ENSG00000134982 ENSG00000134982 HGNC:583 ATM gene ATM Expert list;Expert Review Amber;NHS GMS Sarcoma susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Sarcoma, MONDO:0005089 27498913;30567006;33503190 False 2 0;100;0 1.82 False ENSG00000149311 ENSG00000149311 HGNC:795 ATR gene ATR Expert list;Expert Review Amber;NHS GMS Sarcoma susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Sarcoma, MONDO:0005089 27498913 False 2 0;100;0 1.82 False ENSG00000175054 ENSG00000175054 HGNC:882 BLM gene BLM Expert list;Expert Review Amber;NHS GMS Sarcoma susceptibility Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Bloom syndrome, OMIM:210900;Osteosarcoma (disease), MONDO:0009807 28338660 False 2 0;100;0 1.82 False ENSG00000197299 ENSG00000197299 HGNC:1058 BRCA2 gene BRCA2 Expert list;Expert Review Amber;NHS GMS Sarcoma susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Sarcoma, MONDO:0005089 17224268;27498913 False 2 0;100;0 1.82 False ENSG00000139618 ENSG00000139618 HGNC:1101 BUB1B gene BUB1B Expert Review Amber;Literature;NHS GMS Sarcoma susceptibility Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Mosaic variegated aneuploidy syndrome 1, OMIM:257300;Rhabdomyosarcoma (disease), MONDO:0005212 False 2 100;0;0 1.82 False ENSG00000156970 ENSG00000156970 HGNC:1149 CDKN1C gene CDKN1C Expert Review Amber;Literature;NHS GMS Sarcoma susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Beckwith-Wiedemann syndrome, OMIM:130650;Rhabdomyosarcoma (disease), MONDO:0005212 False 2 100;0;0 1.82 False ENSG00000129757 ENSG00000129757 HGNC:1786 ERCC2 gene ERCC2 Expert list;Expert Review Amber;NHS GMS Sarcoma susceptibility Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Sarcoma, MONDO:0005089 27498913 False 2 0;100;0 1.82 False ENSG00000104884 ENSG00000104884 HGNC:3434 FANCC gene FANCC Expert Review Amber;Literature Sarcoma susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ewing sarcoma, MONDO:0012817 28878254;35512711 False 2 100;0;0 1.82 False ENSG00000158169 ENSG00000158169 HGNC:3584 FH gene FH Expert Review;Expert Review Amber;NHS GMS Sarcoma susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Leiomyomatosis and renal cell cancer, OMIM:150800;Hereditary leiomyomatosis and renal cell cancer, MONDO:0007888;Leiomyosarcoma, MONDO:0005058 False 2 0;0;0 1.82 False ENSG00000091483 ENSG00000091483 HGNC:3700 HRAS gene HRAS Expert Review Amber;Literature;NHS GMS Sarcoma susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Costello syndrome, OMIM:218040;Rhabdomyosarcoma (disease), MONDO:0005212 False 2 100;0;0 1.82 False ENSG00000174775 ENSG00000174775 HGNC:5173 KIT gene KIT Expert List;Expert Review Amber;NHS GMS Sarcoma susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Gastrointestinal stromal tumor, familial, OMIM:606764;Gastrointestinal stromal tumor, MONDO:0011719 False 2 100;0;0 1.82 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000157404 ENSG00000157404 HGNC:6342 MLH1 gene MLH1 Expert Review Amber;Literature;NHS GMS Sarcoma susceptibility Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Mismatch repair cancer syndrome 1, OMIM:276300;Rhabdomyosarcoma (disease), MONDO:0005212 False 2 100;0;0 1.82 False ENSG00000076242 ENSG00000076242 HGNC:7127 MSH2 gene MSH2 Expert Review Amber;Literature;NHS GMS Sarcoma susceptibility Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Mismatch repair cancer syndrome 2, OMIM:619096;Rhabdomyosarcoma (disease), MONDO:0005212 False 2 100;0;0 1.82 False ENSG00000095002 ENSG00000095002 HGNC:7325 MSH6 gene MSH6 Expert Review Amber;Literature;NHS GMS Sarcoma susceptibility Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Mismatch repair cancer syndrome 3, OMIM:619097;Rhabdomyosarcoma (disease), MONDO:0005212 False 2 100;0;0 1.82 False ENSG00000116062 ENSG00000116062 HGNC:7329 NBN gene NBN Expert Review Amber;Literature;NHS GMS Sarcoma susceptibility Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Nijmegen breakage syndrome, OMIM:251260;Rhabdomyosarcoma (disease), MONDO:0005212 False 2 100;0;0 1.82 False ENSG00000104320 ENSG00000104320 HGNC:7652 PMS2 gene PMS2 Expert Review Amber;Literature;NHS GMS Sarcoma susceptibility Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Mismatch repair cancer syndrome 4, OMIM:619101;Rhabdomyosarcoma (disease), MONDO:0005212 27050224 False 2 100;0;0 1.82 False ENSG00000122512 ENSG00000122512 HGNC:9122 PTEN gene PTEN Expert list;Expert Review Amber;NHS GMS Sarcoma susceptibility Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Leiomyosarcoma, MONDO:0005058 28228279 False 2 0;100;0 1.82 False ENSG00000171862 ENSG00000171862 HGNC:9588 RB1 gene RB1 Expert Review Amber;Literature;NHS GMS Sarcoma susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Retinoblastoma, OMIM:180200;Osteosarcoma, somatic, OMIM:259500 28338660 False 2 100;0;0 1.82 False ENSG00000139687 ENSG00000139687 HGNC:9884 SDHA gene SDHA Expert List;Expert Review Amber;NHS GMS Sarcoma susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 2 100;0;0 1.82 False ENSG00000073578 ENSG00000073578 HGNC:10680 SDHB gene SDHB Expert List;Expert Review Amber;NHS GMS Sarcoma susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Paraganglioma and gastric stromal sarcoma, OMIM:606864;Carney-Stratakis syndrome, MONDO:0011740 False 2 100;0;0 1.82 False ENSG00000117118 ENSG00000117118 HGNC:10681 SDHC gene SDHC Expert List;Expert Review Amber;NHS GMS Sarcoma susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Paraganglioma and gastric stromal sarcoma, OMIM:606864;Carney-Stratakis syndrome, MONDO:0011740 False 2 100;0;0 1.82 False ENSG00000143252 ENSG00000143252 HGNC:10682 SDHD gene SDHD Expert List;Expert Review Amber;NHS GMS Sarcoma susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Paraganglioma and gastric stromal sarcoma, OMIM:606864;Carney-Stratakis syndrome, MONDO:0011740 False 2 100;0;0 1.82 False ENSG00000204370 ENSG00000204370 HGNC:10683 SMARCA4 gene SMARCA4 Expert list;Expert Review Amber;NHS GMS Sarcoma susceptibility Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Uterine corpus sarcoma, MONDO:0005210 31190001 False 2 0;100;0 1.82 False ENSG00000127616 ENSG00000127616 HGNC:11100 SMARCB1 gene SMARCB1 Expert list;Expert Review Amber;NHS GMS Sarcoma susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Rhabdoid tumor predisposition syndrome 1}, OMIM:609322;Rhabdoid tumor predisposition syndrome 1, MONDO:0012252;{Schwannomatosis-1, susceptibility to}, OMIM:162091;Schwannomatosis 1, MONDO:0024517 False 2 0;100;0 1.82 False ENSG00000099956 ENSG00000099956 HGNC:11103 WRN gene WRN Expert list;Expert Review Amber;NHS GMS Sarcoma susceptibility Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Werner syndrome, OMIM:277700;Osteosarcoma (disease), MONDO:0009807 28338660 False 2 0;0;0 1.82 False ENSG00000165392 ENSG00000165392 HGNC:12791 CREBBP gene CREBBP Expert Review Red;Literature;NHS GMS Sarcoma susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Rubinstein-Taybi syndrome 1, OMIM:180849;Rhabdomyosarcoma (disease), MONDO:0005212 False 1 0;0;100 1.82 False ENSG00000005339 ENSG00000005339 HGNC:2348 DICER1 gene DICER1 Expert Review Red;Literature;NHS GMS Sarcoma susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pleuropulmonary blastoma, OMIM:601200;Pleuropulmonary blastoma, MONDO:0011014;Rhabdomyosarcoma, embryonal, 2, OMIM:180295;Embryonal rhabdomyosarcoma (disease), MONDO:0009993 30989777;21882293 False 1 0;0;100 1.82 False ENSG00000100697 ENSG00000100697 HGNC:17098 FOXO1 gene FOXO1 Expert Review Red;NHS GMS;Radboud University Medical Center, Nijmegen Sarcoma susceptibility Cancer susceptibility Other - please specifiy in evaluation comments Rhabdomyosarcoma, alveolar, OMIM:268220 25768946 False 1 0;0;100 1.82 False ENSG00000150907 ENSG00000150907 HGNC:3819 KRAS gene KRAS Expert Review Red;Literature;NHS GMS Sarcoma susceptibility Cancer susceptibility Other Nevus, Epidermal, OMIM:162900;Rhabdomyosarcoma (disease), MONDO:0005212 20805368 False 1 0;0;100 1.82 False ENSG00000133703 ENSG00000133703 HGNC:6407 PAX3 gene PAX3 Expert Review Red;NHS GMS;Radboud University Medical Center, Nijmegen Sarcoma susceptibility Cancer susceptibility Other - please specifiy in evaluation comments Rhabdomyosarcoma, alveolar, OMIM:268220 25768946 False 1 0;0;100 1.82 False ENSG00000135903 ENSG00000135903 HGNC:8617 PAX7 gene PAX7 Expert Review Red;NHS GMS;Radboud University Medical Center, Nijmegen Sarcoma susceptibility Cancer susceptibility Other - please specifiy in evaluation comments Rhabdomyosarcoma 2, alveolar, OMIM:268220 25768946 False 1 0;0;100 1.82 False ENSG00000009709 ENSG00000009709 HGNC:8621 PDGFRA gene PDGFRA Expert list;Expert Review Red;NHS GMS Sarcoma susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial, OMIM:175510;Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal, MONDO:0008285 26297068;14699510;17566086;25975287 False 1 67;0;33 1.82 False ENSG00000134853 ENSG00000134853 HGNC:8803 TERT gene TERT Expert Review Red;Literature;Other Sarcoma susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Solitary Fibrous Tumour 24726063;27562490;29985536;31529158;31321477;38392213;38357190 False 1 100;0;0 1.82 False ENSG00000164362 ENSG00000164362 HGNC:11730 TNFRSF11A gene TNFRSF11A Expert list;Expert Review Red;NHS GMS Sarcoma susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Paget disease of bone 2, early-onset}, OMIM:602080;Osteosarcoma (disease), MONDO:0009807 15758393;12673693;11351498 False 1 0;0;0 1.82 False ENSG00000141655 ENSG00000141655 HGNC:11908 WT1 gene WT1 Expert Review Red;Literature;NHS GMS Sarcoma susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Wilms tumour 1, OMIM:194070;Rhabdomyosarcoma (disease), MONDO:0005212 False 1 0;0;100 1.82 False ENSG00000184937 ENSG00000184937 HGNC:12796