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 Review Green;Illumina TruGenome Clinical Sequencing Services;UKGTN Peutz-Jeghers syndrome 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 0;0;0 0.21 True ENSG00000134982 ENSG00000134982 HGNC:583 BMPR1A gene BMPR1A Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Peutz-Jeghers syndrome 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 False 3 0;0;0 0.21 True ENSG00000107779 ENSG00000107779 HGNC:1076 MLH1 gene MLH1 Emory Genetics Laboratory;Expert list;Expert Review Green Peutz-Jeghers syndrome GI tract Tumour syndromes BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal "Mismatch repair cancer syndrome 276300 AR;Muir-Torre syndrome 158320 AD" 24362816 False 3 0;0;0 0.21 True ENSG00000076242 ENSG00000076242 HGNC:7127 MSH2 gene MSH2 Emory Genetics Laboratory;Expert list;Expert Review Green Peutz-Jeghers syndrome 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 Thompson BA, Spurdle AB, Plazzer J-P, Greenblatt M, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capella G, du Sart D, Fabre A, Farrell MP, Farrington S, Frayling IM, et al., on behalf of InSiGHT, Macrae F, Genuardi M. (2014) Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. Nature Genetics 46:107-115;doi:10.1038/ng.2854. False 3 0;0;0 0.21 False ENSG00000095002 ENSG00000095002 HGNC:7325 MSH6 gene MSH6 Emory Genetics Laboratory;Expert list;Expert Review Green Peutz-Jeghers syndrome 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 Thompson BA, Spurdle AB, Plazzer J-P, Greenblatt M, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capella G, du Sart D, Fabre A, Farrell MP, Farrington S, Frayling IM, et al., on behalf of InSiGHT, Macrae F, Genuardi M. (2014) Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. Nature Genetics 46:107-115;doi:10.1038/ng.2854. False 3 0;0;0 0.21 False ENSG00000116062 ENSG00000116062 HGNC:7329 MUTYH gene MUTYH Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;UKGTN Peutz-Jeghers syndrome GI tract Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Gastrointestinal and Colorectal Cancer; High Risk Colorectal Cancer;MYH-Associated Polyposis;MUTYH-Associated Polyposis;Familial Adenomatous Polyposis, 2;adenomatous polyposis Sampson JR, Dolwani S, Jones S, Eccles D, Ellis A, Evans DG, Frayling I, Pigatto F, Jordan S, Mak T, Maher ER, Maynard J, Shaw J, Cheadle JP. (2003) Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. Lancet 362(9377):39-41. False 3 0;0;0 0.21 False ENSG00000132781 ENSG00000132781 HGNC:7527 NTHL1 gene NTHL1 Expert Review;Expert Review Green;Literature Peutz-Jeghers syndrome GI tract Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Colorectal cancer; multiple adenomas;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 0.21 False ENSG00000065057 ENSG00000065057 HGNC:8028 PMS2 gene PMS2 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green Peutz-Jeghers syndrome 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 Thompson BA, Spurdle AB, Plazzer J-P, Greenblatt M, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capella G, du Sart D, Fabre A, Farrell MP, Farrington S, Frayling IM, et al., on behalf of InSiGHT, Macrae F, Genuardi M. (2014) Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. Nature Genetics 46:107-115;doi:10.1038/ng.2854. False 3 0;0;0 0.21 False ENSG00000122512 ENSG00000122512 HGNC:9122 POLD1 gene POLD1 Expert list;Expert Review;Expert Review Green Peutz-Jeghers syndrome GI tract Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial colorectal cancer;Familial polyposis and colon cancer PMID: 26133394 False 3 0;0;0 0.21 False ENSG00000062822 ENSG00000062822 HGNC:9175 POLE gene POLE Expert list;Expert Review;Expert Review Green Peutz-Jeghers syndrome GI tract Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial colorectal polyposis and cancer;Familial polyposis and colon cancer PMID: 26133394 False 3 0;0;0 0.21 False ENSG00000177084 ENSG00000177084 HGNC:9177 PTEN gene PTEN Emory Genetics Laboratory;Expert Review;Expert Review Green Peutz-Jeghers syndrome GI tract Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Gastrointestinal and Colorectal Cancer; High Risk Colorectal Cancer;Bowel polyps found in majority of patients with PTEN-related disorders False 3 0;0;0 0.21 False ENSG00000171862 ENSG00000171862 HGNC:9588 SMAD4 gene SMAD4 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;UKGTN Peutz-Jeghers syndrome GI tract Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Gastrointestinal and Colorectal Cancer;High Risk Colorectal Cancer;juvenile polyposis;Pancreatic cancer; Polyposis, juvenile intestinal, 174900; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050; Myhre syndrome, 139210;Juvenile Polyposis Syndrome Chow, E., & Macrae, F. A review of juvenile polyposis syndrome. Journal of Gastroenterology and Hepatology 2005;20: 1634-1640. False 3 0;0;0 0.21 False ENSG00000141646 ENSG00000141646 HGNC:6770 STK11 gene STK11 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Other Peutz-Jeghers syndrome GI tract Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Peutz-Jeghers syndrome 175200 False 3 0;0;0 0.21 True ENSG00000118046 ENSG00000118046 HGNC:11389