GET /api/v1/panels/521/
HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept

{
    "id": 521,
    "hash_id": null,
    "name": "Inherited renal cancer",
    "disease_group": "",
    "disease_sub_group": "",
    "status": "public",
    "version": "1.1",
    "version_created": "2020-02-12T11:31:51.021016Z",
    "relevant_disorders": [
        "R224"
    ],
    "stats": {
        "number_of_genes": 16,
        "number_of_strs": 0,
        "number_of_regions": 0
    },
    "types": [
        {
            "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": [
                    "hucep-6",
                    "KIAA0272",
                    "UCHL2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:950",
                "gene_name": "BRCA1 associated protein 1",
                "omim_gene": [
                    "603089"
                ],
                "alias_name": [
                    "ubiquitin carboxy-terminal hydrolase"
                ],
                "gene_symbol": "BAP1",
                "hgnc_symbol": "BAP1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:52435029-52444366",
                            "ensembl_id": "ENSG00000163930"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:52401013-52410350",
                            "ensembl_id": "ENSG00000163930"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-09-17"
            },
            "entity_type": "gene",
            "entity_name": "BAP1",
            "confidence_level": "3",
            "penetrance": "Incomplete",
            "mode_of_pathogenicity": null,
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Expert List",
                "UKGTN"
            ],
            "phenotypes": [
                "Malignant mesothelioma after asbestos exposure",
                "Uveal melanoma",
                "Cutaneous melanoma",
                "Meningioma",
                "Renal cell carcinoma, usually clear cell type"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "fumarase"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3700",
                "gene_name": "fumarate hydratase",
                "omim_gene": [
                    "136850"
                ],
                "alias_name": null,
                "gene_symbol": "FH",
                "hgnc_symbol": "FH",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:241660903-241683061",
                            "ensembl_id": "ENSG00000091483"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:241497603-241519761",
                            "ensembl_id": "ENSG00000091483"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "FH",
            "confidence_level": "3",
            "penetrance": "Incomplete",
            "mode_of_pathogenicity": null,
            "publications": [
                "27899189"
            ],
            "evidence": [
                "Expert Review Green",
                "Expert List",
                "UKGTN"
            ],
            "phenotypes": [
                "Uterine leiomyosarcoma (less common)",
                "Cutaneous leiomyosarcoma (less common)",
                "Renal cell carcinoma, solitary papillary type 2 (about 20% of patients)"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "BHD",
                    "MGC17998",
                    "MGC23445"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:27310",
                "gene_name": "folliculin",
                "omim_gene": [
                    "607273"
                ],
                "alias_name": null,
                "gene_symbol": "FLCN",
                "hgnc_symbol": "FLCN",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:17115526-17140502",
                            "ensembl_id": "ENSG00000154803"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:17212212-17237188",
                            "ensembl_id": "ENSG00000154803"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-08-05"
            },
            "entity_type": "gene",
            "entity_name": "FLCN",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": null,
            "publications": [
                "27899189"
            ],
            "evidence": [
                "Expert Review Green",
                "Expert List",
                "UKGTN"
            ],
            "phenotypes": [
                "Renal carcinoma",
                "Parotid oncocytomas",
                "Neural tissue tumors",
                "Lipomas",
                "Angiolipomas"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "HGFR",
                    "RCCP2",
                    "DFNB97"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7029",
                "gene_name": "MET proto-oncogene, receptor tyrosine kinase",
                "omim_gene": [
                    "164860"
                ],
                "alias_name": [
                    "hepatocyte growth factor receptor"
                ],
                "gene_symbol": "MET",
                "hgnc_symbol": "MET",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:116312444-116438440",
                            "ensembl_id": "ENSG00000105976"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:116672390-116798386",
                            "ensembl_id": "ENSG00000105976"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "MET",
            "confidence_level": "3",
            "penetrance": "Incomplete",
            "mode_of_pathogenicity": null,
            "publications": [
                "27899189"
            ],
            "evidence": [
                "Expert Review Green",
                "Expert List",
                "UKGTN"
            ],
            "phenotypes": [
                "hereditary papillary renal carcinoma with type 1 papillary tumors"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10681",
                "gene_name": "succinate dehydrogenase complex iron sulfur subunit B",
                "omim_gene": [
                    "185470"
                ],
                "alias_name": [
                    "iron-sulfur subunit of complex II",
                    "succinate dehydrogenase [ubiquinone] iron-sulfur subunit"
                ],
                "gene_symbol": "SDHB",
                "hgnc_symbol": "SDHB",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:17345217-17380665",
                            "ensembl_id": "ENSG00000117118"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:17018722-17054170",
                            "ensembl_id": "ENSG00000117118"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "SDHB",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": null,
            "publications": [
                "27899189"
            ],
            "evidence": [
                "Expert Review Green",
                "Expert List",
                "UKGTN"
            ],
            "phenotypes": [
                "Cowden syndrome 2",
                "Gastrointestinal stromal tumor",
                "Paraganglioma and gastric stromal sarcoma",
                "Paragangliomas 4",
                "Pheochromocytoma."
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "VHL1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12687",
                "gene_name": "von Hippel-Lindau tumor suppressor",
                "omim_gene": [
                    "608537"
                ],
                "alias_name": null,
                "gene_symbol": "VHL",
                "hgnc_symbol": "VHL",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:10182692-10193904",
                            "ensembl_id": "ENSG00000134086"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:10141008-10152220",
                            "ensembl_id": "ENSG00000134086"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "VHL",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": null,
            "publications": [
                "27899189"
            ],
            "evidence": [
                "Expert Review Green",
                "Expert List",
                "UKGTN"
            ],
            "phenotypes": [
                "Renal hemangioblastoma",
                "Renal cell carcinoma",
                "Multiple renal cysts",
                "Pheochromocytoma",
                "Sporadic cerebellar hemangioblastoma",
                "Hypernephroma",
                "Pancreatic cancer",
                "Paraganglioma",
                "Adenocarcinoma of ampulla of Vater"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "P15",
                    "MTS2",
                    "INK4B",
                    "TP15",
                    "CDK4I",
                    "p15INK4b"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1788",
                "gene_name": "cyclin dependent kinase inhibitor 2B",
                "omim_gene": [
                    "600431"
                ],
                "alias_name": null,
                "gene_symbol": "CDKN2B",
                "hgnc_symbol": "CDKN2B",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:22002902-22009362",
                            "ensembl_id": "ENSG00000147883"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:22002903-22009363",
                            "ensembl_id": "ENSG00000147883"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1995-06-14"
            },
            "entity_type": "gene",
            "entity_name": "CDKN2B",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "25873077"
            ],
            "evidence": [
                "Expert Review Amber",
                "UKGTN"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "MI",
                    "bHLHe32"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7105",
                "gene_name": "melanogenesis associated transcription factor",
                "omim_gene": [
                    "156845"
                ],
                "alias_name": [
                    "homolog of mouse microphthalmia"
                ],
                "gene_symbol": "MITF",
                "hgnc_symbol": "MITF",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:69788586-70017488",
                            "ensembl_id": "ENSG00000187098"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:69739435-69968337",
                            "ensembl_id": "ENSG00000187098"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-10-27"
            },
            "entity_type": "gene",
            "entity_name": "MITF",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "27899189"
            ],
            "evidence": [
                "Expert Review Amber",
                "UKGTN"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "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": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:89622870-89731687",
                            "ensembl_id": "ENSG00000171862"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:87863113-87971930",
                            "ensembl_id": "ENSG00000171862"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-04-21"
            },
            "entity_type": "gene",
            "entity_name": "PTEN",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [],
            "evidence": [
                "Expert Review Amber",
                "Expert List",
                "UKGTN"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CYB560",
                    "cybL"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10682",
                "gene_name": "succinate dehydrogenase complex subunit C",
                "omim_gene": [
                    "602413"
                ],
                "alias_name": [
                    "succinate dehydrogenase cytochrome b560 subunit",
                    "succinate dehydrgenase cytochrome b",
                    "large subunit of cytochrome b"
                ],
                "gene_symbol": "SDHC",
                "hgnc_symbol": "SDHC",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:161284047-161332984",
                            "ensembl_id": "ENSG00000143252"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:161314257-161375340",
                            "ensembl_id": "ENSG00000143252"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-10-21"
            },
            "entity_type": "gene",
            "entity_name": "SDHC",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "27899189"
            ],
            "evidence": [
                "Expert Review Amber",
                "UKGTN"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "cybS"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10683",
                "gene_name": "succinate dehydrogenase complex subunit D",
                "omim_gene": [
                    "602690"
                ],
                "alias_name": [
                    "small subunit of cytochrome b"
                ],
                "gene_symbol": "SDHD",
                "hgnc_symbol": "SDHD",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:111957497-111990353",
                            "ensembl_id": "ENSG00000204370"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:112086773-112120013",
                            "ensembl_id": "ENSG00000204370"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-10-21"
            },
            "entity_type": "gene",
            "entity_name": "SDHD",
            "confidence_level": "2",
            "penetrance": "Complete",
            "mode_of_pathogenicity": null,
            "publications": [
                "27899189"
            ],
            "evidence": [
                "Expert Review Amber",
                "UKGTN"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "Other",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ20507",
                    "FLJ22257"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:26038",
                "gene_name": "transmembrane protein 127",
                "omim_gene": [
                    "613403"
                ],
                "alias_name": null,
                "gene_symbol": "TMEM127",
                "hgnc_symbol": "TMEM127",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:96914254-96931732",
                            "ensembl_id": "ENSG00000135956"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:96248516-96265994",
                            "ensembl_id": "ENSG00000135956"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-02-13"
            },
            "entity_type": "gene",
            "entity_name": "TMEM127",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "24334765"
            ],
            "evidence": [
                "Expert Review Amber",
                "UKGTN"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "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": "2017-11-03",
                "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": "0",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Removed",
                "Expert List",
                "Expert list"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": null
        },
        {
            "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": "2017-11-03",
                "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": "0",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Removed",
                "Expert List",
                "Expert list"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": null
        },
        {
            "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": "2017-11-03",
                "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": "0",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Removed",
                "Expert List",
                "Expert list"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": null
        },
        {
            "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": "2017-11-03",
                "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": "0",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Removed",
                "Expert List",
                "Expert list"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": null
        }
    ],
    "strs": [],
    "regions": []
}