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 BRCA1 gene BRCA1 Expert Review Green;NHS GMS Inherited pancreatic cancer MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Pancreatic cancer, susceptibility to, 4}, OMIM:614320;Pancreatic cancer, susceptibility to, 4, MONDO:0013685 30558719 False 3 67;33;0 2.3 False ENSG00000012048 ENSG00000012048 HGNC:1100 BRCA2 gene BRCA2 Expert List;Expert Review Green;NHS GMS Inherited pancreatic cancer MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Pancreatic cancer 2}, OMIM:613347;Pancreatic cancer, susceptibility to, 2, MONDO:0013235 30558719 False 3 100;0;0 2.3 False ENSG00000139618 ENSG00000139618 HGNC:1101 CDKN2A gene CDKN2A Expert List;Expert Review Green;NHS GMS Inherited pancreatic cancer MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Melanoma-pancreatic cancer syndrome}, OMIM:606719;Melanoma-pancreatic cancer syndrome, MONDO:0011713 30558719;32482799 False 3 100;0;0 2.3 False ENSG00000147889 ENSG00000147889 HGNC:1787 PALB2 gene PALB2 Expert List;Expert Review Green;NHS GMS Inherited pancreatic cancer MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Pancreatic cancer, susceptibility to, 3}, OMIM:613348;Pancreatic cancer, susceptibility to, 3, MONDO:0013236 30558719 False 3 100;0;0 2.3 False ENSG00000083093 ENSG00000083093 HGNC:26144 CDK4 gene CDK4 Expert Review Amber;NHS GMS Inherited pancreatic cancer MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Malignant pancreatic neoplasm, MONDO:0009831 30558719 False 2 100;0;0 2.3 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000135446 ENSG00000135446 HGNC:1773 MLH1 gene MLH1 Expert List;Expert Review Amber;NHS GMS Inherited pancreatic cancer MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Malignant pancreatic neoplasm, MONDO:0009831 30558719 False 2 33;67;0 2.3 False ENSG00000076242 ENSG00000076242 HGNC:7127 MSH2 gene MSH2 Expert List;Expert Review Amber;NHS GMS Inherited pancreatic cancer MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Malignant pancreatic neoplasm, MONDO:0009831 30558719 False 2 33;67;0 2.3 False ENSG00000095002 ENSG00000095002 HGNC:7325 MSH6 gene MSH6 Expert List;Expert Review Amber;NHS GMS Inherited pancreatic cancer MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Malignant pancreatic neoplasm, MONDO:0009831 30558719 False 2 33;67;0 2.3 False ENSG00000116062 ENSG00000116062 HGNC:7329 PMS2 gene PMS2 Expert List;Expert Review Amber;NHS GMS Inherited pancreatic cancer MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Malignant pancreatic neoplasm, MONDO:0009831 30558719 False 2 33;67;0 2.3 False ENSG00000122512 ENSG00000122512 HGNC:9122 PRSS1 gene PRSS1 Expert List;Expert Review Amber;NHS GMS Inherited pancreatic cancer MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Malignant pancreatic neoplasm, MONDO:0009831 30558719 False 2 50;50;0 2.3 False ENSG00000204983 ENSG00000204983 HGNC:9475 RABL3 gene RABL3 Literature Inherited pancreatic cancer MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {?Pancreatic cancer, susceptibility to, 5}, OMIM:618680;Pancreatic cancer, susceptibility to, 5, MONDO:0032867 31406347 False 1 0;100;0 2.3 False ENSG00000144840 ENSG00000144840 HGNC:18072 STK11 gene STK11 Expert Review Red;NHS GMS Inherited pancreatic cancer MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pancreatic cancer, somatic, OMIM:260350 30558719 False 1 100;0;0 2.3 False ENSG00000118046 ENSG00000118046 HGNC:11389