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 AXIN2 gene AXIN2 Expert Review Amber;Literature Inherited polyposis and early onset colorectal cancer - germline testing MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Oligodontia-colorectal cancer syndrome, OMIM:608615 15042511;21416598;30671715;32807118;34637023 False 2 0;100;0 2.10 False ENSG00000168646 ENSG00000168646 HGNC:904 GREM1 gene GREM1 Expert Review Amber;NHS GMS Inherited polyposis and early onset colorectal cancer - germline testing 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 2 100;0;0 2.10 False Other ENSG00000166923 ENSG00000166923 HGNC:2001 MBD4 gene MBD4 Expert Review Amber;Literature;NHS GMS Inherited polyposis and early onset colorectal cancer - germline testing BIALLELIC, autosomal or pseudoautosomal Multi-organ tumour predisposition syndrome;Adenomatous colorectal polyposis;Colorectal cancer;Acute myeloid leukemia;Uveal melanoma 12417741;30049810;32239153;35460607 False 2 100;0;0 2.10 False ENSG00000129071 ENSG00000129071 HGNC:6919 MSH3 gene MSH3 Expert Review Amber;NHS GMS Inherited polyposis and early onset colorectal cancer - germline testing BIALLELIC, autosomal or pseudoautosomal Familial adenomatous polyposis 4, OMIM:617100 27476653 False 2 50;0;50 2.10 False ENSG00000113318 ENSG00000113318 HGNC:7326