GET /api/v1/panels/143/?version=2.0
HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
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{
    "id": 143,
    "hash_id": "592843a08f6203468490fa68",
    "name": "Inherited ovarian cancer (without breast cancer)",
    "disease_group": "Tumour syndromes",
    "disease_sub_group": "Breast and endocrine",
    "status": "public",
    "version": "2.0",
    "version_created": "2019-08-16T09:48:34.583608Z",
    "relevant_disorders": [
        "Familial ovarian cancer",
        "R207"
    ],
    "stats": {
        "number_of_genes": 26,
        "number_of_strs": 0,
        "number_of_regions": 0
    },
    "types": [
        {
            "name": "Rare Disease 100K",
            "slug": "rare-disease-100k",
            "description": "Rare Disease 100K"
        },
        {
            "name": "GMS Rare Disease",
            "slug": "gms-rare-disease",
            "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
        },
        {
            "name": "GMS signed-off",
            "slug": "gms-signed-off",
            "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
        }
    ],
    "genes": [
        {
            "gene_data": {
                "alias": [
                    "RNF53",
                    "BRCC1",
                    "PPP1R53",
                    "FANCS"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1100",
                "gene_name": "BRCA1, DNA repair associated",
                "omim_gene": [
                    "113705"
                ],
                "alias_name": [
                    "BRCA1/BRCA2-containing complex, subunit 1",
                    "protein phosphatase 1, regulatory subunit 53",
                    "Fanconi anemia, complementation group S"
                ],
                "gene_symbol": "BRCA1",
                "hgnc_symbol": "BRCA1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:41196312-41277500",
                            "ensembl_id": "ENSG00000012048"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:43044295-43170245",
                            "ensembl_id": "ENSG00000012048"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-02-20"
            },
            "entity_type": "gene",
            "entity_name": "BRCA1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "29661970"
            ],
            "evidence": [
                "NHS GMS",
                "Expert List",
                "Expert Review Green",
                "Illumina TruGenome Clinical Sequencing Services",
                "Eligibility statement prior genetic testing",
                "Expert list",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory",
                "UKGTN"
            ],
            "phenotypes": [
                "{Breast-ovarian cancer, familial, 1}, 604370",
                "{Pancreatic cancer, susceptibility to, 4}, 614320",
                "Hereditary Breast and Ovarian Cancer",
                "Hereditary Breast and Ovarian Cancer Syndrome",
                "Breast and Ovarian Cancer",
                "High Risk Breast Cancer",
                "Breast cancer"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "FAD",
                    "FAD1",
                    "BRCC2",
                    "XRCC11"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1101",
                "gene_name": "BRCA2, DNA repair associated",
                "omim_gene": [
                    "600185"
                ],
                "alias_name": [
                    "BRCA1/BRCA2-containing complex, subunit 2"
                ],
                "gene_symbol": "BRCA2",
                "hgnc_symbol": "BRCA2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "13:32889611-32973805",
                            "ensembl_id": "ENSG00000139618"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "13:32315474-32400266",
                            "ensembl_id": "ENSG00000139618"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-10-17"
            },
            "entity_type": "gene",
            "entity_name": "BRCA2",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "29661970"
            ],
            "evidence": [
                "NHS GMS",
                "Expert List",
                "Expert Review Green",
                "Eligibility statement prior genetic testing",
                "Emory Genetics Laboratory",
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services",
                "Expert list",
                "UKGTN"
            ],
            "phenotypes": [
                "{Breast-ovarian cancer, familial, 2}, 612555",
                "Fanconi anemia, complementation group D1, 605724",
                "Prostate cancer, 176807",
                "{Breast cancer, male, susceptibility to}, 114480",
                "Wilms tumor, 194070",
                "{Medulloblastoma}, 155255",
                "{Glioblastoma 3},",
                "Hereditary Breast and Ovarian Cancer",
                "Hereditary Breast and Ovarian Cancer Syndrome",
                "Breast and Ovarian Cancer",
                "High Risk Breast Cancer",
                "Breast cancer"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "OF",
                    "BACH1",
                    "FANCJ"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:20473",
                "gene_name": "BRCA1 interacting protein C-terminal helicase 1",
                "omim_gene": [
                    "605882"
                ],
                "alias_name": [
                    "BRCA1/BRCA2-associated helicase 1"
                ],
                "gene_symbol": "BRIP1",
                "hgnc_symbol": "BRIP1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:59758627-59940882",
                            "ensembl_id": "ENSG00000136492"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:61681266-61863521",
                            "ensembl_id": "ENSG00000136492"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-04-11"
            },
            "entity_type": "gene",
            "entity_name": "BRIP1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "NHS GMS",
                "Expert List",
                "Expert Review Green",
                "Emory Genetics Laboratory",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "?Breast cancer, early-onset, 114480",
                "Fanconi anemia, complementation group J, 609054",
                "Breast and Ovarian Cancer",
                "Breast Cancer"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "HNPCC",
                    "FCC2",
                    "HNPCC2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7127",
                "gene_name": "mutL homolog 1",
                "omim_gene": [
                    "120436"
                ],
                "alias_name": null,
                "gene_symbol": "MLH1",
                "hgnc_symbol": "MLH1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:37034823-37107380",
                            "ensembl_id": "ENSG00000076242"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:36993332-37050918",
                            "ensembl_id": "ENSG00000076242"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-11-24"
            },
            "entity_type": "gene",
            "entity_name": "MLH1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "NHS GMS",
                "Expert List",
                "Expert Review Green",
                "Emory Genetics Laboratory"
            ],
            "phenotypes": [
                "Adult Glioma",
                "Colorectal",
                "Endometrial Carcinoma",
                "Hepatopancreatobiliary",
                "Ovarian"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "HNPCC",
                    "HNPCC1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7325",
                "gene_name": "mutS homolog 2",
                "omim_gene": [
                    "609309"
                ],
                "alias_name": null,
                "gene_symbol": "MSH2",
                "hgnc_symbol": "MSH2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:47630108-47789450",
                            "ensembl_id": "ENSG00000095002"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:47402969-47562311",
                            "ensembl_id": "ENSG00000095002"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-07-28"
            },
            "entity_type": "gene",
            "entity_name": "MSH2",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "NHS GMS",
                "Expert List",
                "Expert Review Green",
                "Emory Genetics Laboratory"
            ],
            "phenotypes": [
                "Breast and Ovarian Cancer"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7329",
                "gene_name": "mutS homolog 6",
                "omim_gene": [
                    "600678"
                ],
                "alias_name": null,
                "gene_symbol": "MSH6",
                "hgnc_symbol": "MSH6",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:47922669-48037240",
                            "ensembl_id": "ENSG00000116062"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:47695530-47810101",
                            "ensembl_id": "ENSG00000116062"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1995-08-29"
            },
            "entity_type": "gene",
            "entity_name": "MSH6",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "NHS GMS",
                "Expert List",
                "Expert Review Green",
                "Emory Genetics Laboratory"
            ],
            "phenotypes": [
                "Breast and Ovarian Cancer"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "RAD51L2",
                    "FANCO"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9820",
                "gene_name": "RAD51 paralog C",
                "omim_gene": [
                    "602774"
                ],
                "alias_name": null,
                "gene_symbol": "RAD51C",
                "hgnc_symbol": "RAD51C",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:56769934-56811703",
                            "ensembl_id": "ENSG00000108384"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:58692573-58735611",
                            "ensembl_id": "ENSG00000108384"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-02-26"
            },
            "entity_type": "gene",
            "entity_name": "RAD51C",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "NHS GMS",
                "Expert List",
                "Expert Review Green",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory"
            ],
            "phenotypes": [
                "Fanconi anemia, complementation group O, 613390",
                "{Breast-ovarian cancer, familial, susceptibility to, 3}, 613399",
                "Breast and Ovarian Cancer",
                "Breast and Ovarian Cancer Susceptibility"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "R51H3",
                    "Trad",
                    "HsTRAD"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9823",
                "gene_name": "RAD51 paralog D",
                "omim_gene": [
                    "602954"
                ],
                "alias_name": [
                    "recombination repair protein",
                    "DNA repair protein RAD51 homolog 4"
                ],
                "gene_symbol": "RAD51D",
                "hgnc_symbol": "RAD51D",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:33426811-33448541",
                            "ensembl_id": "ENSG00000185379"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:35092208-35121522",
                            "ensembl_id": "ENSG00000185379"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2011-07-01"
            },
            "entity_type": "gene",
            "entity_name": "RAD51D",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "NHS GMS",
                "Expert List",
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "phenotypes": [
                "{Breast-ovarian cancer, familial, susceptibility to, 4}, 614291",
                "Breast and Ovarian Cancer",
                "Breast and Ovarian Cancer Susceptibility"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "H_DJ0042M02.9",
                    "HNPCC4",
                    "MLH4"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9122",
                "gene_name": "PMS1 homolog 2, mismatch repair system component",
                "omim_gene": [
                    "600259"
                ],
                "alias_name": null,
                "gene_symbol": "PMS2",
                "hgnc_symbol": "PMS2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:6012870-6048756",
                            "ensembl_id": "ENSG00000122512"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:5973239-6009125",
                            "ensembl_id": "ENSG00000122512"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-12-13"
            },
            "entity_type": "gene",
            "entity_name": "PMS2",
            "confidence_level": "2",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert List",
                "Expert Review Amber",
                "Emory Genetics Laboratory"
            ],
            "phenotypes": [
                "Breast and Ovarian Cancer"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "AIS",
                    "NR3C4",
                    "SMAX1",
                    "HUMARA"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:644",
                "gene_name": "androgen receptor",
                "omim_gene": [
                    "313700"
                ],
                "alias_name": [
                    "testicular feminization",
                    "Kennedy disease"
                ],
                "gene_symbol": "AR",
                "hgnc_symbol": "AR",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:66764465-66950461",
                            "ensembl_id": "ENSG00000169083"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:67544032-67730619",
                            "ensembl_id": "ENSG00000169083"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "AR",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Androgen insensitivity, 300068",
                "Spinal and bulbar muscular atrophy of Kennedy, 313200",
                "Androgen insensitivity, partial, with or without breast cancer, 312300",
                "{Prostate cancer, susceptibility to}, 176807",
                "Hypospadias 1, X-linked, 300633"
            ],
            "mode_of_inheritance": "",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "TEL1",
                    "TELO1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:795",
                "gene_name": "ATM serine/threonine kinase",
                "omim_gene": [
                    "607585"
                ],
                "alias_name": [
                    "TEL1, telomere maintenance 1, homolog (S. cerevisiae)"
                ],
                "gene_symbol": "ATM",
                "hgnc_symbol": "ATM",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:108093211-108239829",
                            "ensembl_id": "ENSG00000149311"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:108222484-108369102",
                            "ensembl_id": "ENSG00000149311"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1995-07-07"
            },
            "entity_type": "gene",
            "entity_name": "ATM",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Emory Genetics Laboratory",
                "Expert Review Red",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Ataxia-telangiectasia, 208900",
                "Lymphoma, B-cell non-Hodgkin, somatic",
                "{Breast cancer, susceptibility to}, 114480",
                "Lymphoma, mantle cell",
                "T-cell prolymphocytic leukemia, somatic",
                "Breast and Ovarian Cancer"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:952",
                "gene_name": "BRCA1 associated RING domain 1",
                "omim_gene": [
                    "601593"
                ],
                "alias_name": null,
                "gene_symbol": "BARD1",
                "hgnc_symbol": "BARD1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:215590370-215674428",
                            "ensembl_id": "ENSG00000138376"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:214725646-214809711",
                            "ensembl_id": "ENSG00000138376"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-08-05"
            },
            "entity_type": "gene",
            "entity_name": "BARD1",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Radboud University Medical Center, Nijmegen",
                "Expert Review Red",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "phenotypes": [
                "{Breast cancer, susceptibility to}, 114480",
                "Breast Cancer"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "uvomorulin",
                    "CD324"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1748",
                "gene_name": "cadherin 1",
                "omim_gene": [
                    "192090"
                ],
                "alias_name": [
                    "E-Cadherin"
                ],
                "gene_symbol": "CDH1",
                "hgnc_symbol": "CDH1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:68771128-68869451",
                            "ensembl_id": "ENSG00000039068"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:68737225-68835548",
                            "ensembl_id": "ENSG00000039068"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "CDH1",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Emory Genetics Laboratory",
                "Expert Review Red",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Endometrial carcinoma, somatic, 608089",
                "Ovarian carcinoma, somatic, 167000",
                "{Breast cancer, lobular}, 114480",
                "Gastric cancer, familial diffuse, with or without cleft lip and/or palate, 137215",
                "{Prostate cancer, susceptibility to}, 176807",
                "High Risk Breast Cancer",
                "Breast and Ovarian Cancer"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "CDS1",
                    "CHK2",
                    "HuCds1",
                    "PP1425",
                    "bA444G7"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:16627",
                "gene_name": "checkpoint kinase 2",
                "omim_gene": [
                    "604373"
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                "alias_name": null,
                "gene_symbol": "CHEK2",
                "hgnc_symbol": "CHEK2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "22:29083731-29138410",
                            "ensembl_id": "ENSG00000183765"
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                    },
                    "GRch38": {
                        "90": {
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                    }
                },
                "hgnc_date_symbol_changed": "2001-09-27"
            },
            "entity_type": "gene",
            "entity_name": "CHEK2",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "phenotypes": [
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                "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"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": []
        },
        {
            "gene_data": {
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                    "TROP1",
                    "GA733-2",
                    "EGP34",
                    "EGP40",
                    "EGP-2",
                    "KSA",
                    "CD326",
                    "Ep-CAM",
                    "HEA125",
                    "KS1/4",
                    "MK-1",
                    "MH99",
                    "MOC31",
                    "323/A3",
                    "17-1A",
                    "TACST-1",
                    "CO-17A",
                    "ESA"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11529",
                "gene_name": "epithelial cell adhesion molecule",
                "omim_gene": [
                    "185535"
                ],
                "alias_name": null,
                "gene_symbol": "EPCAM",
                "hgnc_symbol": "EPCAM",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "2:47572297-47614740",
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                    },
                    "GRch38": {
                        "90": {
                            "location": "2:47345158-47387601",
                            "ensembl_id": "ENSG00000119888"
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                    }
                },
                "hgnc_date_symbol_changed": "2008-12-16"
            },
            "entity_type": "gene",
            "entity_name": "EPCAM",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Emory Genetics Laboratory"
            ],
            "phenotypes": [
                "Breast and Ovarian Cancer"
            ],
            "mode_of_inheritance": "",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "NR3A1",
                    "Era",
                    "ER-alpha"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3467",
                "gene_name": "estrogen receptor 1",
                "omim_gene": [
                    "133430"
                ],
                "alias_name": [
                    "nuclear receptor subfamily 3 group A member 1",
                    "estrogen receptor alpha",
                    "oestrogen receptor alpha",
                    "E2 receptor alpha"
                ],
                "gene_symbol": "ESR1",
                "hgnc_symbol": "ESR1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:151977826-152450754",
                            "ensembl_id": "ENSG00000091831"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "6:151656691-152129619",
                            "ensembl_id": "ENSG00000091831"
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                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "ESR1",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "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)"
            ],
            "mode_of_inheritance": "",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "MYH"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7527",
                "gene_name": "mutY DNA glycosylase",
                "omim_gene": [
                    "604933"
                ],
                "alias_name": null,
                "gene_symbol": "MUTYH",
                "hgnc_symbol": "MUTYH",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:45794835-45806142",
                            "ensembl_id": "ENSG00000132781"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:45329163-45340470",
                            "ensembl_id": "ENSG00000132781"
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                    }
                },
                "hgnc_date_symbol_changed": "1997-10-24"
            },
            "entity_type": "gene",
            "entity_name": "MUTYH",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Emory Genetics Laboratory"
            ],
            "phenotypes": [
                "Breast and Ovarian Cancer"
            ],
            "mode_of_inheritance": "",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "ATV",
                    "AT-V2",
                    "AT-V1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7652",
                "gene_name": "nibrin",
                "omim_gene": [
                    "602667"
                ],
                "alias_name": null,
                "gene_symbol": "NBN",
                "hgnc_symbol": "NBN",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "8:90945564-91015456",
                            "ensembl_id": "ENSG00000104320"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "8:89933336-90003228",
                            "ensembl_id": "ENSG00000104320"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-06-02"
            },
            "entity_type": "gene",
            "entity_name": "NBN",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Emory Genetics Laboratory"
            ],
            "phenotypes": [
                "Breast and Ovarian Cancer"
            ],
            "mode_of_inheritance": "",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ21816",
                    "FANCN"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:26144",
                "gene_name": "partner and localizer of BRCA2",
                "omim_gene": [
                    "610355"
                ],
                "alias_name": [
                    "Fanconi anemia, complementation group N"
                ],
                "gene_symbol": "PALB2",
                "hgnc_symbol": "PALB2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:23614488-23652631",
                            "ensembl_id": "ENSG00000083093"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:23603160-23641310",
                            "ensembl_id": "ENSG00000083093"
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                    }
                },
                "hgnc_date_symbol_changed": "2007-01-15"
            },
            "entity_type": "gene",
            "entity_name": "PALB2",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory"
            ],
            "phenotypes": [
                "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"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "Wip1",
                    "PP2C-DELTA"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9277",
                "gene_name": "protein phosphatase, Mg2+/Mn2+ dependent 1D",
                "omim_gene": [
                    "605100"
                ],
                "alias_name": [
                    "wild-type p53-induced phosphatase 1",
                    "protein phosphatase 2C, delta isoform"
                ],
                "gene_symbol": "PPM1D",
                "hgnc_symbol": "PPM1D",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:58677544-58741849",
                            "ensembl_id": "ENSG00000170836"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "17:60600183-60666280",
                            "ensembl_id": "ENSG00000170836"
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                    }
                },
                "hgnc_date_symbol_changed": "1998-10-14"
            },
            "entity_type": "gene",
            "entity_name": "PPM1D",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Breast cancer, 114480"
            ],
            "mode_of_inheritance": "",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "MMAC1",
                    "TEP1",
                    "PTEN1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9588",
                "gene_name": "phosphatase and tensin homolog",
                "omim_gene": [
                    "601728"
                ],
                "alias_name": [
                    "mutated in multiple advanced cancers 1"
                ],
                "gene_symbol": "PTEN",
                "hgnc_symbol": "PTEN",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:89622870-89731687",
                            "ensembl_id": "ENSG00000171862"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "10:87863113-87971930",
                            "ensembl_id": "ENSG00000171862"
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                    }
                },
                "hgnc_date_symbol_changed": "1997-04-21"
            },
            "entity_type": "gene",
            "entity_name": "PTEN",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "PMID: 22252256"
            ],
            "evidence": [
                "Emory Genetics Laboratory"
            ],
            "phenotypes": [
                "High Risk Breast Cancer",
                "Breast and Ovarian Cancer"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "hHR54",
                    "hRAD54",
                    "RAD54A"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9826",
                "gene_name": "RAD54 like",
                "omim_gene": [
                    "603615"
                ],
                "alias_name": null,
                "gene_symbol": "RAD54L",
                "hgnc_symbol": "RAD54L",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:46713360-46744145",
                            "ensembl_id": "ENSG00000085999"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:46247688-46278473",
                            "ensembl_id": "ENSG00000085999"
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                    }
                },
                "hgnc_date_symbol_changed": "1998-11-04"
            },
            "entity_type": "gene",
            "entity_name": "RAD54L",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "{Breast cancer, invasive ductal}, 114480",
                "Lymphoma, non-Hodgkin,somatic, 605027",
                "Adenocarcinoma, colonic, somatic"
            ],
            "mode_of_inheritance": "",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "TC21"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17271",
                "gene_name": "RAS related 2",
                "omim_gene": [
                    "600098"
                ],
                "alias_name": null,
                "gene_symbol": "RRAS2",
                "hgnc_symbol": "RRAS2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:14299472-14386052",
                            "ensembl_id": "ENSG00000133818"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:14277926-14364506",
                            "ensembl_id": "ENSG00000133818"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-11-30"
            },
            "entity_type": "gene",
            "entity_name": "RRAS2",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Ovarian carcinoma"
            ],
            "mode_of_inheritance": "Unknown",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "PJS",
                    "LKB1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11389",
                "gene_name": "serine/threonine kinase 11",
                "omim_gene": [
                    "602216"
                ],
                "alias_name": [
                    "polarization-related protein LKB1"
                ],
                "gene_symbol": "STK11",
                "hgnc_symbol": "STK11",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:1189406-1228428",
                            "ensembl_id": "ENSG00000118046"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "19:1177558-1228435",
                            "ensembl_id": "ENSG00000118046"
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                    }
                },
                "hgnc_date_symbol_changed": "1998-01-21"
            },
            "entity_type": "gene",
            "entity_name": "STK11",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "PMID: 11113065"
            ],
            "evidence": [
                "Emory Genetics Laboratory"
            ],
            "phenotypes": [
                "High Risk Breast Cancer",
                "Breast and Ovarian Cancer"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "p53",
                    "LFS1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11998",
                "gene_name": "tumor protein p53",
                "omim_gene": [
                    "191170"
                ],
                "alias_name": [
                    "Li-Fraumeni syndrome"
                ],
                "gene_symbol": "TP53",
                "hgnc_symbol": "TP53",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:7565097-7590856",
                            "ensembl_id": "ENSG00000141510"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:7661779-7687550",
                            "ensembl_id": "ENSG00000141510"
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                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "TP53",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "Emory Genetics Laboratory",
                "Expert list",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "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"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "FANCU"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12829",
                "gene_name": "X-ray repair cross complementing 2",
                "omim_gene": [
                    "600375"
                ],
                "alias_name": [
                    "RAD51-like"
                ],
                "gene_symbol": "XRCC2",
                "hgnc_symbol": "XRCC2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:152341864-152373250",
                            "ensembl_id": "ENSG00000196584"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "7:152644779-152676165",
                            "ensembl_id": "ENSG00000196584"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1995-02-07"
            },
            "entity_type": "gene",
            "entity_name": "XRCC2",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "No OMIM phenotype",
                "Breast cancer (Park (2012) Am J Hum Genet 90, 734)"
            ],
            "mode_of_inheritance": "",
            "tags": []
        }
    ],
    "strs": [],
    "regions": []
}