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 MTAP gene MTAP Expert list;Expert Review Green Sarcoma cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown UPS of bone;Diaphyseal medullary stenosis with malignant fibrous histiocytoma 112250 19197386;22464254 False 3 0;0;0 1.26 False ENSG00000099810 ENSG00000099810 HGNC:7413 PDGFRA gene PDGFRA Expert list;Expert Review Green Sarcoma cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial, OMIM:175510;Familial Gastrointestinal stromal tumour;Familial GIST 26297068;17566086;14699510;25975287 False 3 100;0;0 1.26 False ENSG00000134853 ENSG00000134853 HGNC:8803 RECQL4 gene RECQL4 Expert list;Expert Review Green Sarcoma cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme BIALLELIC, autosomal or pseudoautosomal Rothmund-Thomson syndrome, type 2, OMIM:268400;Osteosarcoma 12612652;17264332;12734318 False 3 100;0;0 1.26 False ENSG00000160957 ENSG00000160957 HGNC:9949 SQSTM1 gene SQSTM1 Expert list;Expert Review Green Sarcoma cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Paget disease of bone 3 167250;Osteosarcoma 9345096;11473345;12374763;21437228 False 3 0;0;0 1.26 False ENSG00000161011 ENSG00000161011 HGNC:11280 T gene T Expert list;Expert Review Green Sarcoma cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Chordoma (disease), MONDO:0008978 19801981;23064415;34837714 False 3 0;0;0 1.26 False ENSG00000164458 ENSG00000164458 HGNC:11515 TP53 gene TP53 Expert list;Expert Review Green Sarcoma cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sarcoma False 3 100;0;0 1.26 False ENSG00000141510 ENSG00000141510 HGNC:11998 BUB1B gene BUB1B Expert Review Amber;Literature Sarcoma cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme BIALLELIC, autosomal or pseudoautosomal Mosaic variegated aneuploidy syndrome 1, 257300 False 2 100;0;0 1.26 False ENSG00000156970 ENSG00000156970 HGNC:1149 CDKN1C gene CDKN1C Expert Review Amber;Literature Sarcoma cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Beckwith-Wiedemann syndrome, 130650 False 2 100;0;0 1.26 False ENSG00000129757 ENSG00000129757 HGNC:1786 EXT1 gene EXT1 Expert Review Amber;Other Sarcoma cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Chondrosarcoma 215300 23770606;10441575;29529714 False 2 0;0;0 1.26 False ENSG00000182197 ENSG00000182197 HGNC:3512 EXT2 gene EXT2 Expert Review Amber;Other Sarcoma cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Exostoses, multiple, type 2 29529714;23770606;27636706;7726168 False 2 0;0;0 1.26 False ENSG00000151348 ENSG00000151348 HGNC:3513 FH gene FH Expert Review;Expert Review Amber Sarcoma cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Leiomyomatosis and renal cell cancer 150800 False 2 0;0;0 1.26 False ENSG00000091483 ENSG00000091483 HGNC:3700 HRAS gene HRAS Expert Review Amber;Literature Sarcoma cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Costello syndrome, 218040 False 2 100;0;0 1.26 False ENSG00000174775 ENSG00000174775 HGNC:5173 KIT gene KIT Expert List;Expert Review Amber Sarcoma cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Gastrointestinal stromal tumor, familial, OMIM:606764 False 2 100;0;0 1.26 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 Sarcoma cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme BIALLELIC, autosomal or pseudoautosomal Mismatch repair cancer syndrome, 276300 False 2 100;0;0 1.26 False ENSG00000076242 ENSG00000076242 HGNC:7127 MSH2 gene MSH2 Expert Review Amber;Literature Sarcoma cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme BIALLELIC, autosomal or pseudoautosomal Mismatch repair cancer syndrome, 276300 False 2 100;0;0 1.26 False ENSG00000095002 ENSG00000095002 HGNC:7325 MSH6 gene MSH6 Expert Review Amber;Literature Sarcoma cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme BIALLELIC, autosomal or pseudoautosomal Mismatch repair cancer syndrome, 276300 False 2 100;0;0 1.26 False ENSG00000116062 ENSG00000116062 HGNC:7329 NBN gene NBN Expert Review Amber;Literature Sarcoma cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme BIALLELIC, autosomal or pseudoautosomal Nijmegen breakage syndrome, 251260 False 2 100;0;0 1.26 False ENSG00000104320 ENSG00000104320 HGNC:7652 NF1 gene NF1 Expert Review Amber;Expert Review Red;Literature Sarcoma cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurofibromatosis, type 1 162200 False 2 100;0;0 1.26 False ENSG00000196712 ENSG00000196712 HGNC:7765 PMS2 gene PMS2 Expert Review Amber;Literature Sarcoma cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme BIALLELIC, autosomal or pseudoautosomal Mismatch repair cancer syndrome, 276300 False 2 100;0;0 1.26 False ENSG00000122512 ENSG00000122512 HGNC:9122 RB1 gene RB1 Expert Review Amber;Literature Sarcoma cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Retinoblastoma, 180200 False 2 100;0;0 1.26 False ENSG00000139687 ENSG00000139687 HGNC:9884 SDHA gene SDHA Expert List;Expert Review Amber Sarcoma cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 2 100;0;0 1.26 False ENSG00000073578 ENSG00000073578 HGNC:10680 SDHB gene SDHB Expert List;Expert Review Amber Sarcoma cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 2 100;0;0 1.26 False ENSG00000117118 ENSG00000117118 HGNC:10681 SDHC gene SDHC Expert List;Expert Review Amber Sarcoma cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 2 100;0;0 1.26 False ENSG00000143252 ENSG00000143252 HGNC:10682 SDHD gene SDHD Expert List;Expert Review Amber Sarcoma cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 2 100;0;0 1.26 False ENSG00000204370 ENSG00000204370 HGNC:10683 WRN gene WRN Expert list;Expert Review Amber Sarcoma cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme BIALLELIC, autosomal or pseudoautosomal Werner syndrome 277700 False 2 0;0;0 1.26 False ENSG00000165392 ENSG00000165392 HGNC:12791