GET /api/v1/panels/522/?format=api&version=1.2
HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept

{
    "id": 522,
    "name": "Familial melanoma",
    "strs": [],
    "genes": [
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "NHS GMS",
                "Expert List"
            ],
            "gene_data": {
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                    "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"
            },
            "penetrance": null,
            "phenotypes": [],
            "transcript": null,
            "entity_name": "BAP1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "NHS GMS",
                "Expert List"
            ],
            "gene_data": {
                "alias": [
                    "PSK-J3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1773",
                "gene_name": "cyclin dependent kinase 4",
                "omim_gene": [
                    "123829"
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                "alias_name": null,
                "gene_symbol": "CDK4",
                "hgnc_symbol": "CDK4",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "12:58141510-58149796",
                            "ensembl_id": "ENSG00000135446"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "12:57747727-57756013",
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                    }
                },
                "hgnc_date_symbol_changed": "1993-07-28"
            },
            "penetrance": null,
            "phenotypes": [],
            "transcript": null,
            "entity_name": "CDK4",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "NHS GMS",
                "Expert List"
            ],
            "gene_data": {
                "alias": [
                    "CDK4I",
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                    "INK4a",
                    "MTS1",
                    "CMM2",
                    "ARF",
                    "p19",
                    "p14",
                    "INK4",
                    "p16INK4a",
                    "p19Arf",
                    "p14ARF"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1787",
                "gene_name": "cyclin dependent kinase inhibitor 2A",
                "omim_gene": [
                    "600160"
                ],
                "alias_name": null,
                "gene_symbol": "CDKN2A",
                "hgnc_symbol": "CDKN2A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:21967751-21995300",
                            "ensembl_id": "ENSG00000147889"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "9:21967753-21995301",
                            "ensembl_id": "ENSG00000147889"
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                    }
                },
                "hgnc_date_symbol_changed": "1994-05-19"
            },
            "penetrance": null,
            "phenotypes": [],
            "transcript": null,
            "entity_name": "CDKN2A",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "NHS GMS"
            ],
            "gene_data": {
                "alias": [
                    "Ptop",
                    "Pip1",
                    "Tpp1",
                    "Tint1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25070",
                "gene_name": "ACD, shelterin complex subunit and telomerase recruitment factor",
                "omim_gene": [
                    "609377"
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                "alias_name": [
                    "TIN2 interacting protein 1",
                    "POT1 and TIN2 organizing protein"
                ],
                "gene_symbol": "ACD",
                "hgnc_symbol": "ACD",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "16:67691415-67694713",
                            "ensembl_id": "ENSG00000102977"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "16:67657512-67660815",
                            "ensembl_id": "ENSG00000102977"
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                    }
                },
                "hgnc_date_symbol_changed": "2005-01-04"
            },
            "penetrance": null,
            "phenotypes": [],
            "transcript": null,
            "entity_name": "ACD",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "2",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "NHS GMS"
            ],
            "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": "2017-11-03",
                "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"
            },
            "penetrance": null,
            "phenotypes": [],
            "transcript": null,
            "entity_name": "BRCA2",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "2",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "NHS GMS",
                "Expert List"
            ],
            "gene_data": {
                "alias": [
                    "hPot1",
                    "DKFZp586D211"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17284",
                "gene_name": "protection of telomeres 1",
                "omim_gene": [
                    "606478"
                ],
                "alias_name": null,
                "gene_symbol": "POT1",
                "hgnc_symbol": "POT1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:124462440-124570037",
                            "ensembl_id": "ENSG00000128513"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "7:124822386-124929983",
                            "ensembl_id": "ENSG00000128513"
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                    }
                },
                "hgnc_date_symbol_changed": "2004-08-20"
            },
            "penetrance": null,
            "phenotypes": [],
            "transcript": null,
            "entity_name": "POT1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "2",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "NHS GMS"
            ],
            "gene_data": {
                "alias": [
                    "RAP1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:19246",
                "gene_name": "TERF2 interacting protein",
                "omim_gene": [
                    "605061"
                ],
                "alias_name": null,
                "gene_symbol": "TERF2IP",
                "hgnc_symbol": "TERF2IP",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:75681684-75795770",
                            "ensembl_id": "ENSG00000166848"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "16:75647786-75761872",
                            "ensembl_id": "ENSG00000166848"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2002-09-18"
            },
            "penetrance": null,
            "phenotypes": [],
            "transcript": null,
            "entity_name": "TERF2IP",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "2",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "NHS GMS",
                "Expert List"
            ],
            "gene_data": {
                "alias": [
                    "TRT",
                    "TP2",
                    "TCS1",
                    "hEST2",
                    "EST2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11730",
                "gene_name": "telomerase reverse transcriptase",
                "omim_gene": [
                    "187270"
                ],
                "alias_name": null,
                "gene_symbol": "TERT",
                "hgnc_symbol": "TERT",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:1253262-1295184",
                            "ensembl_id": "ENSG00000164362"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "5:1253147-1295069",
                            "ensembl_id": "ENSG00000164362"
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                    }
                },
                "hgnc_date_symbol_changed": "1998-01-21"
            },
            "penetrance": null,
            "phenotypes": [],
            "transcript": null,
            "entity_name": "TERT",
            "entity_type": "gene",
            "publications": [
                "23348503"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        }
    ],
    "stats": {
        "number_of_strs": 0,
        "number_of_genes": 8,
        "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."
        }
    ],
    "status": "public",
    "hash_id": null,
    "regions": [],
    "version": "1.2",
    "disease_group": "",
    "version_created": "2020-03-04T11:49:49.326165Z",
    "disease_sub_group": "",
    "relevant_disorders": [
        "R254"
    ],
    "signed_off": "2020-03-04"
}