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 APC gene APC Expert list;Expert Review;Expert Review Green Colorectal Cancer and Polyposis Cancer Predisposition MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted APC-related attenuated familial adenomatous polyposis, MONDO:0016613;Classic familial adenomatous polyposis, MONDO:0021055;Familial adenomatous polyposis 1, MONDO:0021056;Adenomatous polyposis coli, MIM#175100 Hereditary nonpolyposis colorectal carcinoma;HP:0006716; Colorectal polyposis;HP:0200063 False 3 100;0;0 1.1 True ENSG00000134982 ENSG00000134982 HGNC:583 AXIN2 gene AXIN2 Expert list;Expert Review;Expert Review Green Colorectal Cancer and Polyposis Cancer Predisposition MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted AXIN2-related attenuated familial adenomatous polyposis, MONDO:0018426;Oligodontia-cancer predisposition syndrome, MONDO:0012075;Oligodontia-colorectal cancer syndrome, MIM#608615 Hereditary nonpolyposis colorectal carcinoma;HP:0006716; Colorectal polyposis;HP:0200063 False 3 100;0;0 1.1 True ENSG00000168646 ENSG00000168646 HGNC:904 BMPR1A gene BMPR1A Expert list;Expert Review;Expert Review Green Colorectal Cancer and Polyposis Cancer Predisposition MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polyposis syndrome, hereditary mixed, 2, MONDO:0012405;Polyposis, juvenile intestinal, MIM#174900 Hereditary nonpolyposis colorectal carcinoma;HP:0006716; Colorectal polyposis;HP:0200063 False 3 100;0;0 1.1 True ENSG00000107779 ENSG00000107779 HGNC:1076 EPCAM gene EPCAM Expert list;Expert Review;Expert Review Green Colorectal Cancer and Polyposis Cancer Predisposition MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lynch syndrome 8, MONDO:0013196;Lynch syndrome 8, MIM#613244 Hereditary nonpolyposis colorectal carcinoma;HP:0006716; Colorectal polyposis;HP:0200063 False 3 100;0;0 1.1 True ENSG00000119888 ENSG00000119888 HGNC:11529 GREM1 gene GREM1 Expert list;Expert Review;Expert Review Green;Literature Colorectal Cancer and Polyposis Cancer Predisposition MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Colorectal cancer, MONDO:0005575;Polyposis, MONDO:0000147;Hereditary mixed polyposis syndrome, MONDO:0011023;GREM1-associated polyposis, no MIM# Hereditary nonpolyposis colorectal carcinoma;HP:0006716; Colorectal polyposis;HP:0200063 PMID: 22561515, 25419707 False 3 100;0;0 1.1 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000166923 ENSG00000166923 HGNC:2001 MLH1 gene MLH1 Expert list;Expert Review;Expert Review Green Colorectal Cancer and Polyposis Cancer Predisposition BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Colorectal cancer, MONDO:0005575;Polyposis, MONDO:0000147;Lynch syndrome 2, MONDO:0012249;Mismatch repair cancer syndrome 1, MONDO:0010159;Lynch syndrome 2, MIM#609310;Mismatch repair cancer syndrome 1, MIM#276300 Hereditary nonpolyposis colorectal carcinoma;HP:0006716; Colorectal polyposis;HP:0200063 False 3 100;0;0 1.1 True ENSG00000076242 ENSG00000076242 HGNC:7127 MSH2 gene MSH2 Expert list;Expert Review;Expert Review Green Colorectal Cancer and Polyposis Cancer Predisposition BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Colorectal cancer, MONDO:0005575;Polyposis, MONDO:0000147;Lynch syndrome 1, MONDO:0007356;Mismatch repair cancer syndrome 2, MONDO:0030840;Lynch syndrome 1, MIM#120435;Mismatch repair cancer syndrome 2, MIM#619096 Hereditary nonpolyposis colorectal carcinoma;HP:0006716; Colorectal polyposis;HP:0200063 False 3 100;0;0 1.1 True ENSG00000095002 ENSG00000095002 HGNC:7325 MSH3 gene MSH3 Expert list;Expert Review;Expert Review Green Colorectal Cancer and Polyposis Cancer Predisposition BIALLELIC, autosomal or pseudoautosomal Colorectal cancer, MONDO:0005575;Polyposis, MONDO:0000147;Familial adenomatous polyposis 4, MONDO:0044300;Familial adenomatous polyposis 4, MIM#617100 Hereditary nonpolyposis colorectal carcinoma;HP:0006716; Colorectal polyposis;HP:0200063 False 3 100;0;0 1.1 True ENSG00000113318 ENSG00000113318 HGNC:7326 MSH6 gene MSH6 Expert list;Expert Review;Expert Review Green Colorectal Cancer and Polyposis Cancer Predisposition BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Colorectal cancer, MONDO:0005575;Polyposis, MONDO:0000147;Lynch syndrome 5, MONDO:0013710;Mismatch repair cancer syndrome 3, MONDO:0030841;Lynch syndrome 5, MIM#614350;Mismatch repair cancer syndrome 3, MIM#619097 Hereditary nonpolyposis colorectal carcinoma;HP:0006716; Colorectal polyposis;HP:0200063 False 3 100;0;0 1.1 True ENSG00000116062 ENSG00000116062 HGNC:7329 MUTYH gene MUTYH Expert list;Expert Review;Expert Review Green Colorectal Cancer and Polyposis Cancer Predisposition BIALLELIC, autosomal or pseudoautosomal Colorectal cancer, MONDO:0005575;Polyposis, MONDO:0000147;Familial adenomatous polyposis 2, MONDO:0012041;Adenomas, multiple colorectal, MIM#608456 Hereditary nonpolyposis colorectal carcinoma;HP:0006716; Colorectal polyposis;HP:0200063 False 3 100;0;0 1.1 True ENSG00000132781 ENSG00000132781 HGNC:7527 NTHL1 gene NTHL1 Expert list;Expert Review;Expert Review Green Colorectal Cancer and Polyposis Cancer Predisposition BIALLELIC, autosomal or pseudoautosomal Colorectal cancer, MONDO:0005575;Polyposis, MONDO:0000147;NTHL1-deficiency tumor predisposition syndrome, MONDO:0100502;Familial adenomatous polyposis 3, MIM#616415 Hereditary nonpolyposis colorectal carcinoma;HP:0006716; Colorectal polyposis;HP:0200063 False 3 100;0;0 1.1 True ENSG00000065057 ENSG00000065057 HGNC:8028 PMS2 gene PMS2 Expert list;Expert Review;Expert Review Green Colorectal Cancer and Polyposis Cancer Predisposition BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Colorectal cancer, MONDO:0005575;Polyposis, MONDO:0000147;Lynch syndrome 4, MONDO:0013699;Mismatch repair cancer syndrome 4, MONDO:0030843;Lynch syndrome 4, MIM#614337;Mismatch repair cancer syndrome 4, MIM#619101 Hereditary nonpolyposis colorectal carcinoma;HP:0006716; Colorectal polyposis;HP:0200063 False 3 100;0;0 1.1 True ENSG00000122512 ENSG00000122512 HGNC:9122 POLD1 gene POLD1 Expert list;Expert Review;Expert Review Green Colorectal Cancer and Polyposis Cancer Predisposition MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted POLD1-related polyposis and colorectal cancer syndrome, MONDO:0100351;POLD1-associated polyposis, MIM#612591 Hereditary nonpolyposis colorectal carcinoma;HP:0006716; Colorectal polyposis;HP:0200063 False 3 100;0;0 1.1 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000062822 ENSG00000062822 HGNC:9175 POLE gene POLE Expert list;Expert Review;Expert Review Green Colorectal Cancer and Polyposis Cancer Predisposition MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted POLE-related polyposis and colorectal cancer syndrome, MONDO:0100287;POLE-associated polyposis, MIM#615083 Hereditary nonpolyposis colorectal carcinoma;HP:0006716; Colorectal polyposis;HP:0200063 False 3 100;0;0 1.1 True ENSG00000177084 ENSG00000177084 HGNC:9177 PTEN gene PTEN Expert list;Expert Review;Expert Review Green Colorectal Cancer and Polyposis Cancer Predisposition MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted PTEN hamartoma tumor syndrome, MONDO:0017623;PTEN hamartoma tumour syndromes, MIM#158350 Hereditary nonpolyposis colorectal carcinoma;HP:0006716; Colorectal polyposis;HP:0200063 False 3 100;0;0 1.1 True ENSG00000171862 ENSG00000171862 HGNC:9588 RNF43 gene RNF43 Expert list;Expert Review;Expert Review Green;Literature Colorectal Cancer and Polyposis Cancer Predisposition MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Colorectal cancer, MONDO:0005575;Polyposis, MONDO:0000147;Sessile serrated polyposis cancer syndrome, MONDO:0014919;Sessile serrated polyposis cancer syndrome, MIM#617108 Hereditary nonpolyposis colorectal carcinoma;HP:0006716; Colorectal polyposis;HP:0200063 PMID: 24512911, 34541672, 27329244, 27081527, 29330307 False 3 100;0;0 1.1 True ENSG00000108375 ENSG00000108375 HGNC:18505 SMAD4 gene SMAD4 Expert list;Expert Review;Expert Review Green Colorectal Cancer and Polyposis Cancer Predisposition MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MONDO:0008278;Polyposis, juvenile intestinal, MIM#174900;Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MIM#175050 Hereditary nonpolyposis colorectal carcinoma;HP:0006716; Colorectal polyposis;HP:0200063 False 3 100;0;0 1.1 True ENSG00000141646 ENSG00000141646 HGNC:6770 STK11 gene STK11 Expert list;Expert Review;Expert Review Green Colorectal Cancer and Polyposis Cancer Predisposition MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Peutz-Jeghers syndrome, MONDO:0008280;Peutz-Jeghers syndrome, MIM#175200 Hereditary nonpolyposis colorectal carcinoma;HP:0006716; Colorectal polyposis;HP:0200063 False 3 100;0;0 1.1 True ENSG00000118046 ENSG00000118046 HGNC:11389 TP53 gene TP53 Expert list;Expert Review;Expert Review Green Colorectal Cancer and Polyposis Cancer Predisposition MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Colorectal cancer, MONDO:0005575;Polyposis, MONDO:0000147;Li-Fraumeni syndrome, MONDO:0018875;Li-Fraumeni syndrome, MIM#151623 Hereditary nonpolyposis colorectal carcinoma;HP:0006716; Colorectal polyposis;HP:0200063 False 3 100;0;0 1.1 True ENSG00000141510 ENSG00000141510 HGNC:11998