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 Colorectal cancer pertinent cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Colorectal cancer False 3 100;0;0 1.0 False ENSG00000134982 ENSG00000134982 HGNC:583 BMPR1A gene BMPR1A Expert list;Expert Review Green Colorectal cancer pertinent cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Colorectal cancer False 3 100;0;0 1.0 False ENSG00000107779 ENSG00000107779 HGNC:1076 MLH1 gene MLH1 Expert list;Expert Review Green Colorectal cancer pertinent cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Colorectal cancer False 3 100;0;0 1.0 False ENSG00000076242 ENSG00000076242 HGNC:7127 MSH2 gene MSH2 Expert list;Expert Review Green Colorectal cancer pertinent cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Colorectal cancer False 3 100;0;0 1.0 False ENSG00000095002 ENSG00000095002 HGNC:7325 MSH6 gene MSH6 Expert list;Expert Review Green Colorectal cancer pertinent cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Colorectal cancer False 3 100;0;0 1.0 False ENSG00000116062 ENSG00000116062 HGNC:7329 MUTYH gene MUTYH Expert list;Expert Review Green Colorectal cancer pertinent cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme BIALLELIC, autosomal or pseudoautosomal Colorectal cancer False 3 100;0;0 1.0 False ENSG00000132781 ENSG00000132781 HGNC:7527 NTHL1 gene NTHL1 Expert Review Green;Literature;UKGTN Colorectal cancer pertinent cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme BIALLELIC, autosomal or pseudoautosomal "Familial adenomatous polyposis 3 616415" 25938944 False 3 100;0;0 1.0 False ENSG00000065057 ENSG00000065057 HGNC:8028 PMS2 gene PMS2 Expert list;Expert Review Green Colorectal cancer pertinent cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Colorectal cancer False 3 100;0;0 1.0 False ENSG00000122512 ENSG00000122512 HGNC:9122 POLD1 gene POLD1 Expert list;Expert Review Green Colorectal cancer pertinent cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Colorectal cancer False 3 100;0;0 1.0 False ENSG00000062822 ENSG00000062822 HGNC:9175 POLE gene POLE Expert list;Expert Review Green Colorectal cancer pertinent cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Colorectal cancer False 3 100;0;0 1.0 False ENSG00000177084 ENSG00000177084 HGNC:9177 PTEN gene PTEN Expert list;Expert Review Green Colorectal cancer pertinent cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Colorectal cancer False 3 100;0;0 1.0 False ENSG00000171862 ENSG00000171862 HGNC:9588 SMAD4 gene SMAD4 Expert list;Expert Review Green Colorectal cancer pertinent cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Colorectal cancer False 3 100;0;0 1.0 False ENSG00000141646 ENSG00000141646 HGNC:6770 STK11 gene STK11 Expert list;Expert Review Green Colorectal cancer pertinent cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Colorectal cancer False 3 100;0;0 1.0 False ENSG00000118046 ENSG00000118046 HGNC:11389