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 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert List;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;UKGTN GI tract tumours GI tract Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Adenomatous polyposis coli 175100;Brain tumor-polyposis syndrome 2 175100;Gardner syndrome 175100;Desmoid disease, hereditary 135290 False 3 100;0;0 1.27 False ENSG00000134982 ENSG00000134982 HGNC:583 BMPR1A gene BMPR1A Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert List;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN GI tract tumours GI tract Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Gastrointestinal and Colorectal Cancer;High Risk Colorectal Cancer;juvenile polyposis;Polyposis, juvenile intestinal, 174900; Polyposis syndrome, hereditary mixed, 2, 610069; Juvenile polyposis syndrome, infantile form, 174900;Juvenile Polyposis Syndrome;Polyposis syndrome, hereditary mixed, 2, 610069;Juvenile polyposis syndrome, infantile form, 174900 False 3 100;0;0 1.27 False ENSG00000107779 ENSG00000107779 HGNC:1076 EPCAM gene EPCAM Emory Genetics Laboratory;Expert Review Green;NHS GMS GI tract tumours GI tract Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Colorectal cancer, hereditary nonpolyposis, type 8, OMIM:613244 29661970 False 3 67;0;33 1.27 False Other - please provide details in the comments ENSG00000119888 ENSG00000119888 HGNC:11529 MBD4 gene MBD4 Expert Review Green;Literature GI tract tumours GI tract Tumour syndromes 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 1.27 False ENSG00000129071 ENSG00000129071 HGNC:6919 MLH1 gene MLH1 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert List;Expert Review Green;NHS GMS GI tract tumours GI tract Tumour syndromes BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Gastrointestinal and Colorectal Cancer; High Risk Colorectal Cancer;Mismatch repair cancer syndrome 276300 AR;Muir-Torre syndrome 158320 AD 24362816 False 3 100;0;0 1.27 False ENSG00000076242 ENSG00000076242 HGNC:7127 MSH2 gene MSH2 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert List;Expert Review Green;NHS GMS GI tract tumours GI tract Tumour syndromes BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal "Colorectal cancer, hereditary nonpolyposis, type 1 120435 AD;Mismatch repair cancer syndrome 276300 AR;Muir-Torre syndrome 158320 AD" 24362816 False 3 100;0;0 1.27 False ENSG00000095002 ENSG00000095002 HGNC:7325 MSH6 gene MSH6 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert List;Expert Review Green;NHS GMS GI tract tumours GI tract Tumour syndromes BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal "Colorectal cancer, hereditary nonpolyposis, type 5 614350 AD;Endometrial cancer, familial 608089;Mismatch repair cancer syndrome 276300 AR" 24362816 False 3 100;0;0 1.27 False ENSG00000116062 ENSG00000116062 HGNC:7329 MUTYH gene MUTYH Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert List;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;UKGTN GI tract tumours GI tract Tumour syndromes BIALLELIC, autosomal or pseudoautosomal "Gastrointestinal and Colorectal Cancer High Risk Adenomas, multiple colorectal 608456" 12853198 False 3 100;0;0 1.27 False ENSG00000132781 ENSG00000132781 HGNC:7527 NTHL1 gene NTHL1 Expert List;Expert Review;Expert Review Green;Literature;NHS GMS;Research GI tract tumours GI tract Tumour syndromes BIALLELIC, autosomal or pseudoautosomal "Familial adenomatous polyposis 3 616415" 25938944 False 3 50;25;25 1.27 False ENSG00000065057 ENSG00000065057 HGNC:8028 PMS2 gene PMS2 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert List;Expert Review Green;NHS GMS;Other GI tract tumours GI tract Tumour syndromes BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal "Colorectal cancer, hereditary nonpolyposis, type 4 614337;Mismatch repair cancer syndrome 276300 AR" 24362816 False 3 100;0;0 1.27 False ENSG00000122512 ENSG00000122512 HGNC:9122 POLD1 gene POLD1 Expert list;Expert List;Expert Review;Expert Review Green;NHS GMS GI tract tumours GI tract Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "{Colorectal cancer, susceptibility to, 10} 612591" 26133394 False 3 67;33;0 1.27 False ENSG00000062822 ENSG00000062822 HGNC:9175 POLE gene POLE Expert list;Expert List;Expert Review;Expert Review Green;NHS GMS GI tract tumours GI tract Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "{Colorectal cancer, susceptibility to, 12} 615083 AD" 26133394 False 3 67;33;0 1.27 False ENSG00000177084 ENSG00000177084 HGNC:9177 PTEN gene PTEN Emory Genetics Laboratory;Expert List;Expert Review;Expert Review Green;NHS GMS GI tract tumours GI tract Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "PTEN hamartoma tumor syndrome;Bannayan-Riley-Ruvalcaba syndrome 153480 AD;Cowden syndrome 1 158350" 20301661 False 3 100;0;0 1.27 False ENSG00000171862 ENSG00000171862 HGNC:9588 SMAD4 gene SMAD4 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert List;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN GI tract tumours GI tract Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polyposis, juvenile intestinal, 174900;Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 16246179 False 3 100;0;0 1.27 False ENSG00000141646 ENSG00000141646 HGNC:6770 STK11 gene STK11 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert List;Expert Review Green;NHS GMS;Other GI tract tumours GI tract Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Peutz-Jeghers syndrome 175200 20581245 False 3 100;0;0 1.27 False ENSG00000118046 ENSG00000118046 HGNC:11389