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 Green;NHS GMS Inherited polyposis and early onset colorectal cancer - germline testing Inherited cancer MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Desmoid disease, hereditary, OMIM:135290;Brain tumor-polyposis syndrome 2, OMIM:175100;Gardner syndrome, OMIM:175100;Adenomatous polyposis coli, OMIM:175100;Gastric adenocarcinoma and proximal polyposis of the stomach, OMIM:619182 False 3 100;0;0 3.11 False ENSG00000134982 ENSG00000134982 HGNC:583 BMPR1A gene BMPR1A Expert List;Expert Review Green;NHS GMS Inherited polyposis and early onset colorectal cancer - germline testing Inherited cancer MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polyposis syndrome, hereditary mixed, 2, OMIM:610069;Polyposis, juvenile intestinal, OMIM:174900 False 3 100;0;0 3.11 False ENSG00000107779 ENSG00000107779 HGNC:1076 EPCAM gene EPCAM Expert Review Green;NHS GMS Inherited polyposis and early onset colorectal cancer - germline testing Inherited cancer MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Colorectal cancer, hereditary nonpolyposis, type 8, OMIM:613244 False 3 75;0;25 3.11 False ENSG00000119888 ENSG00000119888 HGNC:11529 GREM1 gene GREM1 Expert Review Green;NHS GMS Inherited polyposis and early onset colorectal cancer - germline testing Inherited cancer MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hereditary mixed polyposis syndrome, MONDO:0011023 25992589;26947005;28242209;27984123;9024286;10092300;12696020;18084292;21128281;22561515;24586997;26493165;29804199;25419707 False 3 100;0;0 3.11 False Other ENSG00000166923 ENSG00000166923 HGNC:2001 MBD4 gene MBD4 Expert Review Green;Literature;NHS GMS Inherited polyposis and early onset colorectal cancer - germline testing Inherited cancer BIALLELIC, autosomal or pseudoautosomal Tumor predisposition syndrome 2, OMIM:619975;Multi-organ tumour predisposition syndrome;Adenomatous colorectal polyposis;Colorectal cancer;Acute myeloid leukemia;Uveal melanoma 12417741;30049810;32239153;35460607;35381620;32421892 False 3 100;0;0 3.11 False ENSG00000129071 ENSG00000129071 HGNC:6919 MLH1 gene MLH1 Expert List;Expert Review Green;NHS GMS Inherited polyposis and early onset colorectal cancer - germline testing Inherited cancer MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Colorectal cancer, hereditary nonpolyposis, type 2, OMIM:609310;Mismatch repair cancer syndrome, OMIM:276300;Muir-Torre syndrome, OMIM:158320 False 3 100;0;0 3.11 False ENSG00000076242 ENSG00000076242 HGNC:7127 MSH2 gene MSH2 Expert List;Expert Review Green;NHS GMS Inherited polyposis and early onset colorectal cancer - germline testing Inherited cancer MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Muir-Torre syndrome, OMIM:158320;Colorectal cancer, hereditary nonpolyposis, type 1, OMIM:120435;Mismatch repair cancer syndrome, OMIM:276300 False 3 100;0;0 3.11 False ENSG00000095002 ENSG00000095002 HGNC:7325 MSH6 gene MSH6 Expert List;Expert Review Green;NHS GMS Inherited polyposis and early onset colorectal cancer - germline testing Inherited cancer MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mismatch repair cancer syndrome, OMIM:276300;Colorectal cancer, hereditary nonpolyposis, type 5, OMIM:614350;Endometrial cancer, familial, OMIM:608089 False 3 100;0;0 3.11 False ENSG00000116062 ENSG00000116062 HGNC:7329 MUTYH gene MUTYH Expert List;Expert Review Green;NHS GMS Inherited polyposis and early onset colorectal cancer - germline testing Inherited cancer BIALLELIC, autosomal or pseudoautosomal Adenomas, multiple colorectal, OMIM:608456 False 3 100;0;0 3.11 False ENSG00000132781 ENSG00000132781 HGNC:7527 NTHL1 gene NTHL1 Expert List;Expert Review Green;NHS GMS Inherited polyposis and early onset colorectal cancer - germline testing Inherited cancer BIALLELIC, autosomal or pseudoautosomal Familial adenomatous polyposis 3, OMIM:616415;NTHL1-related attenuated familial adenomatous polyposis, MONDO:0014630 False 3 60;20;20 3.11 False ENSG00000065057 ENSG00000065057 HGNC:8028 PMS2 gene PMS2 Expert List;Expert Review Green;NHS GMS Inherited polyposis and early onset colorectal cancer - germline testing Inherited cancer MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Colorectal cancer, hereditary nonpolyposis, type 4, OMIM:614337;Mismatch repair cancer syndrome 4, OMIM:619101 False 3 100;0;0 3.11 False ENSG00000122512 ENSG00000122512 HGNC:9122 POLD1 gene POLD1 Expert List;Expert Review Green;NHS GMS Inherited polyposis and early onset colorectal cancer - germline testing Inherited cancer MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Colorectal cancer, susceptibility to, 10}, OMIM:612591;Colorectal cancer, susceptibility to, 10, MONDO:0012953 False 3 75;25;0 3.11 False ENSG00000062822 ENSG00000062822 HGNC:9175 POLE gene POLE Expert List;Expert Review Green;NHS GMS Inherited polyposis and early onset colorectal cancer - germline testing Inherited cancer MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Colorectal cancer, susceptibility to, 12}, OMIM:615083 False 3 75;25;0 3.11 False ENSG00000177084 ENSG00000177084 HGNC:9177 PTEN gene PTEN Expert List;Expert Review Green;NHS GMS Inherited polyposis and early onset colorectal cancer - germline testing Inherited cancer MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cowden syndrome 1, OMIM:158350;Lhermitte-Duclos syndrome, OMIM:158350;Cowden syndrome 1, MONDO:0008021 False 3 100;0;0 3.11 False ENSG00000171862 ENSG00000171862 HGNC:9588 RNF43 gene RNF43 Expert Review Green;NHS GMS Inherited polyposis and early onset colorectal cancer - germline testing Inherited cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sessile serrated polyposis cancer syndrome, OMIM:617108 24512911;27081527;27329244;27582512;29330307 False 3 100;0;0 3.11 False ENSG00000108375 ENSG00000108375 HGNC:18505 SMAD4 gene SMAD4 Expert List;Expert Review Green;NHS GMS Inherited polyposis and early onset colorectal cancer - germline testing Inherited cancer MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polyposis, juvenile intestinal, OMIM:174900;Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050 False 3 100;0;0 3.11 False ENSG00000141646 ENSG00000141646 HGNC:6770 STK11 gene STK11 Expert List;Expert Review Green;NHS GMS Inherited polyposis and early onset colorectal cancer - germline testing Inherited cancer MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Peutz-Jeghers syndrome, OMIM:175200;Peutz-Jeghers syndrome, MONDO:0008280 False 3 100;0;0 3.11 False ENSG00000118046 ENSG00000118046 HGNC:11389 AXIN2 gene AXIN2 Expert Review Amber;Literature Inherited polyposis and early onset colorectal cancer - germline testing Inherited cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Oligodontia-colorectal cancer syndrome, OMIM:608615 15042511;21416598;30671715;32807118;34637023 False 2 0;100;0 3.11 False ENSG00000168646 ENSG00000168646 HGNC:904 MSH3 gene MSH3 Expert Review Amber;NHS GMS Inherited polyposis and early onset colorectal cancer - germline testing Inherited cancer BIALLELIC, autosomal or pseudoautosomal Familial adenomatous polyposis 4, OMIM:617100;familial adenomatous polyposis 4, MONDO:0044300 27476653;37597744;35675019;38243056;34250384;37402566;18922920;24013230;10706084;27476653 False 2 67;0;33 3.11 False ENSG00000113318 ENSG00000113318 HGNC:7326