GET /api/v1/panels/503/?version=1.2
HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept

{
    "id": 503,
    "name": "Inherited MMR deficiency (Lynch syndrome)",
    "strs": [],
    "genes": [
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Expert List"
            ],
            "gene_data": {
                "alias": [
                    "Ly74",
                    "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": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:47572297-47614740",
                            "ensembl_id": "ENSG00000119888"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:47345158-47387601",
                            "ensembl_id": "ENSG00000119888"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2008-12-16"
            },
            "penetrance": null,
            "phenotypes": [],
            "transcript": null,
            "entity_name": "EPCAM",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Expert List"
            ],
            "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"
            },
            "penetrance": null,
            "phenotypes": [],
            "transcript": null,
            "entity_name": "MLH1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Expert List"
            ],
            "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"
            },
            "penetrance": null,
            "phenotypes": [],
            "transcript": null,
            "entity_name": "MSH2",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Expert List"
            ],
            "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"
            },
            "penetrance": null,
            "phenotypes": [],
            "transcript": null,
            "entity_name": "MSH6",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Expert List"
            ],
            "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"
            },
            "penetrance": null,
            "phenotypes": [],
            "transcript": null,
            "entity_name": "PMS2",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        }
    ],
    "stats": {
        "number_of_strs": 0,
        "number_of_genes": 5,
        "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": "2020-03-04T11:14:37.264404Z",
    "disease_sub_group": "",
    "relevant_disorders": [
        "R210"
    ],
    "signed_off": "2020-03-04"
}