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 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert List;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Inherited ovarian cancer (without breast cancer) Inherited cancer BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Breast-ovarian cancer, familial, 1}, OMIM:604370;Hereditary breast ovarian cancer syndrome, MONDO:0003582 29661970 False 3 100;0;0 4.9 False ENSG00000012048 ENSG00000012048 HGNC:1100 BRCA2 gene BRCA2 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert List;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Inherited ovarian cancer (without breast cancer) Inherited cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Breast-ovarian cancer, familial, 2}, OMIM:612555;Hereditary breast ovarian cancer syndrome, MONDO:0003582 29661970 False 3 100;0;0 4.9 False ENSG00000139618 ENSG00000139618 HGNC:1101 BRIP1 gene BRIP1 Emory Genetics Laboratory;Expert List;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Inherited ovarian cancer (without breast cancer) Inherited cancer MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown familial ovarian cancer, MONDO:0016248 26315354;21964575;29661970;31822495 False 3 67;33;0 4.9 False ENSG00000136492 ENSG00000136492 HGNC:20473 MLH1 gene MLH1 Emory Genetics Laboratory;Expert List;Expert Review Green;NHS GMS Inherited ovarian cancer (without breast cancer) Inherited cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ovarian cancer, MONDO:0008170 29661970 False 3 100;0;0 4.9 False ENSG00000076242 ENSG00000076242 HGNC:7127 MSH2 gene MSH2 Emory Genetics Laboratory;Expert List;Expert Review Green;NHS GMS Inherited ovarian cancer (without breast cancer) Inherited cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ovarian cancer, MONDO:0008170 29661970 False 3 100;0;0 4.9 False ENSG00000095002 ENSG00000095002 HGNC:7325 MSH6 gene MSH6 Emory Genetics Laboratory;Expert List;Expert Review Green;NHS GMS Inherited ovarian cancer (without breast cancer) Inherited cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ovarian cancer, MONDO:0008170 29661970 False 3 100;0;0 4.9 False ENSG00000116062 ENSG00000116062 HGNC:7329 PALB2 gene PALB2 Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen Inherited ovarian cancer (without breast cancer) Inherited cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fanconi anemia, complementation group N, 610832; {Breast cancer, susceptibility to}, 114480; {Pancreatic cancer, susceptibility to, 3}, 613348;High Risk Breast Cancer; Breast and Ovarian Cancer 31841383;32546565 False 3 100;0;0 4.9 False ENSG00000083093 ENSG00000083093 HGNC:26144 RAD51C gene RAD51C Emory Genetics Laboratory;Expert List;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Inherited ovarian cancer (without breast cancer) Inherited cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Breast-ovarian cancer, familial, susceptibility to, 3}, OMIM:613399;Breast-ovarian cancer, familial, susceptibility to, 3, MONDO:0013253 22538716;23372765;29661970 False 3 100;0;0 4.9 False ENSG00000108384 ENSG00000108384 HGNC:9820 RAD51D gene RAD51D Emory Genetics Laboratory;Expert List;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Inherited ovarian cancer (without breast cancer) Inherited cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Breast-ovarian cancer, familial, susceptibility to, 4}, OMIM:614291;Breast-ovarian cancer, familial, susceptibility to, 4, MONDO:0013669 29661970 False 3 100;0;0 4.9 False ENSG00000185379 ENSG00000185379 HGNC:9823 LLGL2 gene LLGL2 Expert Review Amber;Literature Inherited ovarian cancer (without breast cancer) Inherited cancer MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown High-grade serous ovarian carcinoma 39794353 False 2 50;50;0 4.9 False ENSG00000073350 ENSG00000073350 HGNC:6629 PMS2 gene PMS2 Emory Genetics Laboratory;Expert List;Expert Review Amber Inherited ovarian cancer (without breast cancer) Inherited cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ovarian cancer, MONDO:0008170 False 2 0;100;0 4.9 False ENSG00000122512 ENSG00000122512 HGNC:9122 AR gene AR Expert Review Red;Radboud University Medical Center, Nijmegen Inherited ovarian cancer (without breast cancer) Inherited cancer Androgen insensitivity, OMIM:300068;Androgen insensitivity, partial, with or without breast cancer, OMIM:312300 False 1 0;0;0 4.9 False ENSG00000169083 ENSG00000169083 HGNC:644 ATM gene ATM Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen Inherited ovarian cancer (without breast cancer) Inherited cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Breast cancer, susceptibility to}, OMIM:114480 False 1 0;0;0 4.9 False ENSG00000149311 ENSG00000149311 HGNC:795 BARD1 gene BARD1 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Inherited ovarian cancer (without breast cancer) Inherited cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Breast cancer, susceptibility to}, OMIM:114480 False 1 0;0;0 4.9 False ENSG00000138376 ENSG00000138376 HGNC:952 CDH1 gene CDH1 Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen Inherited ovarian cancer (without breast cancer) Inherited cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ovarian cancer, somatic, OMIM:167000 False 1 0;0;0 4.9 False ENSG00000039068 ENSG00000039068 HGNC:1748 CHEK2 gene CHEK2 Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Inherited ovarian cancer (without breast cancer) Inherited cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Li-Fraumeni syndrome, 609265; Osteosarcoma, somatic, 259500; {Breast cancer, susceptibility to}, 114480; {Prostate cancer, familial, susceptibility to}, 176807; {Breast and colorectal cancer, susceptibility to};Breast and Ovarian Cancer;Breast Cancer False 1 0;0;0 4.9 False ENSG00000183765 ENSG00000183765 HGNC:16627 EPCAM gene EPCAM Emory Genetics Laboratory Inherited ovarian cancer (without breast cancer) Inherited cancer Breast and Ovarian Cancer False 1 0;0;0 4.9 False ENSG00000119888 ENSG00000119888 HGNC:11529 ESR1 gene ESR1 Radboud University Medical Center, Nijmegen Inherited ovarian cancer (without breast cancer) Inherited cancer Estrogen resistance, 615363; {HDL response to hormone replacement, augmented}; {Migraine, susceptibility to}, 157300; {Atherosclerosis, susceptibility to}; {Myocardial infarction, susceptibility to}, 608446; {Breast cancer}, 114480 (1) False 1 0;0;0 4.9 False ENSG00000091831 ENSG00000091831 HGNC:3467 MUTYH gene MUTYH Emory Genetics Laboratory Inherited ovarian cancer (without breast cancer) Inherited cancer Breast and Ovarian Cancer False 1 0;0;0 4.9 False ENSG00000132781 ENSG00000132781 HGNC:7527 NBN gene NBN Emory Genetics Laboratory Inherited ovarian cancer (without breast cancer) Inherited cancer Breast and Ovarian Cancer False 1 0;0;0 4.9 False ENSG00000104320 ENSG00000104320 HGNC:7652 PPM1D gene PPM1D Radboud University Medical Center, Nijmegen Inherited ovarian cancer (without breast cancer) Inherited cancer Breast cancer, 114480 False 1 0;0;0 4.9 False ENSG00000170836 ENSG00000170836 HGNC:9277 PTEN gene PTEN Emory Genetics Laboratory Inherited ovarian cancer (without breast cancer) Inherited cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted High Risk Breast Cancer; Breast and Ovarian Cancer PMID: 22252256 False 1 0;0;0 4.9 False ENSG00000171862 ENSG00000171862 HGNC:9588 RAD54L gene RAD54L Radboud University Medical Center, Nijmegen Inherited ovarian cancer (without breast cancer) Inherited cancer {Breast cancer, invasive ductal}, 114480; Lymphoma, non-Hodgkin,somatic, 605027; Adenocarcinoma, colonic, somatic False 1 0;0;0 4.9 False ENSG00000085999 ENSG00000085999 HGNC:9826 RRAS2 gene RRAS2 Radboud University Medical Center, Nijmegen Inherited ovarian cancer (without breast cancer) Inherited cancer Unknown Ovarian carcinoma False 1 0;0;0 4.9 False ENSG00000133818 ENSG00000133818 HGNC:17271 STK11 gene STK11 Emory Genetics Laboratory Inherited ovarian cancer (without breast cancer) Inherited cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted High Risk Breast Cancer; Breast and Ovarian Cancer PMID: 11113065 False 1 0;0;0 4.9 False ENSG00000118046 ENSG00000118046 HGNC:11389 TP53 gene TP53 Emory Genetics Laboratory;Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Inherited ovarian cancer (without breast cancer) Inherited cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Colorectal cancer, 114500; Li-Fraumeni syndrome, 151623; Hepatocellular carcinoma, 114550; Osteosarcoma, 259500; Choroid plexus papilloma, 260500; Nasopharyngeal carcinoma, 607107; Pancreatic cancer, 260350; Adrenal cortical carcinoma, 202300; Breast cancer, 114480; {Basal cell carcinoma 7}, 614740; {Glioma susceptibility 1}, 137800;High Risk Breast Cancer; Breast and Ovarian Cancer False 1 0;0;0 4.9 False ENSG00000141510 ENSG00000141510 HGNC:11998 XRCC2 gene XRCC2 Radboud University Medical Center, Nijmegen Inherited ovarian cancer (without breast cancer) Inherited cancer No OMIM phenotype; Breast cancer (Park (2012) Am J Hum Genet 90, 734) False 1 0;0;0 4.9 False ENSG00000196584 ENSG00000196584 HGNC:12829