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 Review Green;Illumina TruGenome Clinical Sequencing Services;UKGTN Multiple bowel polyps GI tract Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted APC-Associated Polyposis Disorders;Familial Adenomatous Polyposis;Familial Adenomatous Polyposis 1 False 3 100;0;0 1.11 True ENSG00000134982 ENSG00000134982 HGNC:583 BMPR1A gene BMPR1A Eligibility statement prior genetic testing;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Multiple bowel polyps GI tract Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polyposis, juvenile intestinal, 174900; Polyposis syndrome, hereditary mixed, 2, 610069; Juvenile polyposis syndrome, infantile form, 174900;Juvenile Polyposis Syndrome;juvenile polyposis False 3 100;0;0 1.11 True ENSG00000107779 ENSG00000107779 HGNC:1076 MLH1 gene MLH1 Eligibility statement prior genetic testing;Expert Review Green Multiple bowel polyps GI tract Tumour syndromes BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Wimmer, K., Kratz, C. P., Vasen, H. F., et al. Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium Care for CMMRD (C4CMMRD). Journal of Medical Genetics 2014;51: 355-365. False 3 100;0;0 1.11 True ENSG00000076242 ENSG00000076242 HGNC:7127 MSH2 gene MSH2 Eligibility statement prior genetic testing;Expert Review Green Multiple bowel polyps GI tract Tumour syndromes BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Wimmer, K., Kratz, C. P., Vasen, H. F., et al. Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium Care for CMMRD (C4CMMRD). Journal of Medical Genetics 2014;51: 355-365. False 3 100;0;0 1.11 True ENSG00000095002 ENSG00000095002 HGNC:7325 MSH6 gene MSH6 Eligibility statement prior genetic testing;Expert Review Green Multiple bowel polyps GI tract Tumour syndromes BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Wimmer, K., Kratz, C. P., Vasen, H. F., et al. Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium Care for CMMRD (C4CMMRD). Journal of Medical Genetics 2014;51: 355-365. False 3 100;0;0 1.11 True ENSG00000116062 ENSG00000116062 HGNC:7329 MUTYH gene MUTYH Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;UKGTN Multiple bowel polyps GI tract Tumour syndromes BIALLELIC, autosomal or pseudoautosomal MYH-Associated Polyposis;MUTYH-Associated Polyposis;Familial Adenomatous Polyposis, 2;adenomatous polyposis False 3 100;0;0 1.11 True ENSG00000132781 ENSG00000132781 HGNC:7527 NTHL1 gene NTHL1 Expert Review Green;Literature;Research Multiple bowel polyps GI tract Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Multiple colorectal adenomas; colorectal cancer "Weren, Robbert DA, et al. ""A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer."" Nature genetics 47.6 (2015): 668-671." False 3 0;0;0 1.11 True ENSG00000065057 ENSG00000065057 HGNC:8028 PMS2 gene PMS2 Expert Review Green;Other Multiple bowel polyps GI tract Tumour syndromes BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Lynch syndrome False 3 100;0;0 1.11 True ENSG00000122512 ENSG00000122512 HGNC:9122 POLD1 gene POLD1 Expert Review;Expert Review Green Multiple bowel polyps GI tract Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial polyposis and colon cancer PMID: 26133394 False 3 0;0;0 1.11 True ENSG00000062822 ENSG00000062822 HGNC:9175 POLE gene POLE Expert Review;Expert Review Green Multiple bowel polyps GI tract Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial polyposis and colon cancer PMID: 26133394 False 3 0;0;0 1.11 True ENSG00000177084 ENSG00000177084 HGNC:9177 PTEN gene PTEN Expert Review;Expert Review Green Multiple bowel polyps GI tract Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bowel polyps found in majority of patients with PTEN-related disorders http://www.ncbi.nlm.nih.gov/books/NBK1488/ False 3 0;0;0 1.11 True ENSG00000171862 ENSG00000171862 HGNC:9588 SMAD4 gene SMAD4 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Multiple bowel polyps GI tract Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pancreatic cancer; Polyposis, juvenile intestinal, 174900; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050; Myhre syndrome, 139210;Juvenile Polyposis Syndrome;juvenile polyposis False 3 100;0;0 1.11 True ENSG00000141646 ENSG00000141646 HGNC:6770 ENG gene ENG Expert Review Red;Illumina TruGenome Clinical Sequencing Services Multiple bowel polyps GI tract Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Juvenile Polyposis False 1 0;0;0 1.11 True ENSG00000106991 ENSG00000106991 HGNC:3349 GREM1 gene GREM1 Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Multiple bowel polyps GI tract Tumour syndromes {Colorectal cancer, increased risk, association with}(Peters (2012) Hum Genet 131,217);Oligosyndactyly of the hands, Cenani-Linz-like (Dimitrov (2010) J Med Genet 47,569);Mixed polyposis syndrome (Jaeger (2012) Nat Genet 44,699);Polyposis Syndrome, Hereditary Mixed, 1;Hereditary Mixed Polyposis Syndrome Nat Genet. 2012 May 6;44(6):699-703. doi: 10.1038/ng.2263. False 1 100;0;0 1.11 True ENSG00000166923 ENSG00000166923 HGNC:2001