GET /api/v1/panels/504/?version=1.2
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{
    "id": 504,
    "name": "Inherited polyposis",
    "strs": [],
    "genes": [
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "NHS GMS",
                "Expert List"
            ],
            "gene_data": {
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                    "DP2",
                    "DP3",
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                "gene_name": "APC, WNT signaling pathway regulator",
                "omim_gene": [
                    "611731"
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                "alias_name": [
                    "protein phosphatase 1, regulatory subunit 46"
                ],
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                },
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            },
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                "Desmoid disease, hereditary 135290",
                "Brain tumor-polyposis syndrome 2 175100",
                "Gardner syndrome 175100",
                "Adenomatous polyposis coli 175100"
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            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
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                "Expert Review Green",
                "NHS GMS",
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                "hgnc_id": "HGNC:1076",
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            },
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                "Juvenile Polyposis Syndrome",
                "Polyposis, juvenile intestinal, 174900",
                "High Risk Colorectal Cancer",
                "juvenile polyposis"
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        },
        {
            "tags": [],
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                "Expert Review Green",
                "NHS GMS"
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                    "CD326",
                    "Ep-CAM",
                    "HEA125",
                    "KS1/4",
                    "MK-1",
                    "MH99",
                    "MOC31",
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                "biotype": "protein_coding",
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                "gene_name": "epithelial cell adhesion molecule",
                "omim_gene": [
                    "185535"
                ],
                "alias_name": null,
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            },
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                "Gastrointestinal and Colorectal Cancer",
                "High Risk Colorectal Cancer"
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            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "NHS GMS",
                "Expert List"
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                    "HNPCC2"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7127",
                "gene_name": "mutL homolog 1",
                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "MLH1",
                "hgnc_symbol": "MLH1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "3:37034823-37107380",
                            "ensembl_id": "ENSG00000076242"
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                "hgnc_date_symbol_changed": "1993-11-24"
            },
            "penetrance": null,
            "phenotypes": [
                "Mismatch repair cancer syndrome 276300 AR",
                "Gastrointestinal and Colorectal Cancer",
                "High Risk Colorectal Cancer",
                "Muir-Torre syndrome 158320 AD"
            ],
            "transcript": null,
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            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
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                "Expert Review Green",
                "NHS GMS",
                "Expert List"
            ],
            "gene_data": {
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                    "HNPCC",
                    "HNPCC1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7325",
                "gene_name": "mutS homolog 2",
                "omim_gene": [
                    "609309"
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                "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"
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                    },
                    "GRch38": {
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                            "location": "2:47402969-47562311",
                            "ensembl_id": "ENSG00000095002"
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                    }
                },
                "hgnc_date_symbol_changed": "1993-07-28"
            },
            "penetrance": null,
            "phenotypes": [
                "Muir-Torre syndrome\t158320\tAD",
                "Colorectal cancer, hereditary nonpolyposis, type 1\t120435\tAD",
                "Mismatch repair cancer syndrome\t276300\tAR"
            ],
            "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": [
                "Expert Review Green",
                "NHS GMS",
                "Expert List"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7329",
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                "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"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "2:47695530-47810101",
                            "ensembl_id": "ENSG00000116062"
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                    }
                },
                "hgnc_date_symbol_changed": "1995-08-29"
            },
            "penetrance": null,
            "phenotypes": [
                "Mismatch repair cancer syndrome\t276300\tAR",
                "Colorectal cancer, hereditary nonpolyposis, type 5\t614350\tAD",
                "Endometrial cancer, familial\t608089"
            ],
            "transcript": null,
            "entity_name": "MSH6",
            "entity_type": "gene",
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            "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": {
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                    "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": "2017-11-03",
                "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"
            },
            "penetrance": null,
            "phenotypes": [
                "Gastrointestinal and Colorectal Cancer High Risk Adenomas, multiple colorectal\t608456"
            ],
            "transcript": null,
            "entity_name": "MUTYH",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "NHS GMS",
                "Expert List"
            ],
            "gene_data": {
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                    "NTH1",
                    "OCTS3"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8028",
                "gene_name": "nth like DNA glycosylase 1",
                "omim_gene": [
                    "602656"
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                "alias_name": null,
                "gene_symbol": "NTHL1",
                "hgnc_symbol": "NTHL1",
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                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:2089816-2097867",
                            "ensembl_id": "ENSG00000065057"
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                "hgnc_date_symbol_changed": "1998-05-27"
            },
            "penetrance": null,
            "phenotypes": [
                "Familial adenomatous polyposis 3\t616415"
            ],
            "transcript": null,
            "entity_name": "NTHL1",
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            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "NHS GMS",
                "Expert List"
            ],
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                    "MLH4"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9122",
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                "omim_gene": [
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                "ensembl_genes": {
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                            "location": "7:6012870-6048756",
                            "ensembl_id": "ENSG00000122512"
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            },
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            "phenotypes": [
                "Colorectal cancer, hereditary nonpolyposis, type 4\t614337",
                "Mismatch repair cancer syndrome\t276300\tAR"
            ],
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            "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": [
                    "CDC2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9175",
                "gene_name": "DNA polymerase delta 1, catalytic subunit",
                "omim_gene": [
                    "174761"
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                "alias_name": [
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                "hgnc_symbol": "POLD1",
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                "ensembl_genes": {
                    "GRch37": {
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                            "location": "19:50887461-50921273",
                            "ensembl_id": "ENSG00000062822"
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                    "GRch38": {
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                            "location": "19:50384204-50418018",
                            "ensembl_id": "ENSG00000062822"
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                "hgnc_date_symbol_changed": "1992-02-06"
            },
            "penetrance": null,
            "phenotypes": [
                "{Colorectal cancer, susceptibility to, 10}\t612591"
            ],
            "transcript": null,
            "entity_name": "POLD1",
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            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
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        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "NHS GMS",
                "Expert List"
            ],
            "gene_data": {
                "alias": [
                    "POLE1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9177",
                "gene_name": "DNA polymerase epsilon, catalytic subunit",
                "omim_gene": [
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                "alias_name": [
                    "DNA polymerase epsilon catalytic subunit A"
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                "hgnc_symbol": "POLE",
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                "ensembl_genes": {
                    "GRch37": {
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                            "location": "12:133200348-133263951",
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            "penetrance": null,
            "phenotypes": [
                "{Colorectal cancer, susceptibility to, 12}\t615083\tAD"
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            "entity_name": "POLE",
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            "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": [
                    "MMAC1",
                    "TEP1",
                    "PTEN1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9588",
                "gene_name": "phosphatase and tensin homolog",
                "omim_gene": [
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                ],
                "alias_name": [
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                ],
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                "hgnc_symbol": "PTEN",
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                "ensembl_genes": {
                    "GRch37": {
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                            "location": "10:89622870-89731687",
                            "ensembl_id": "ENSG00000171862"
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                    "GRch38": {
                        "90": {
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                "hgnc_date_symbol_changed": "1997-04-21"
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            "phenotypes": [
                "Bannayan-Riley-Ruvalcaba syndrome\t153480\tAD",
                "Cowden syndrome 1\t158350",
                "PTEN hamartoma tumor syndrome"
            ],
            "transcript": null,
            "entity_name": "PTEN",
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            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "NHS GMS",
                "Expert List"
            ],
            "gene_data": {
                "alias": [
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6770",
                "gene_name": "SMAD family member 4",
                "omim_gene": [
                    "600993"
                ],
                "alias_name": null,
                "gene_symbol": "SMAD4",
                "hgnc_symbol": "SMAD4",
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                            "location": "18:48494410-48611415",
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                    },
                    "GRch38": {
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                            "location": "18:51028394-51085045",
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            "phenotypes": [
                "Polyposis, juvenile intestinal, 174900",
                "Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050"
            ],
            "transcript": null,
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            "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": {
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                    "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",
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                "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"
            },
            "penetrance": null,
            "phenotypes": [
                "Peutz-Jeghers syndrome 175200"
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            "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": [
                    "DRM",
                    "gremlin",
                    "DAND2",
                    "HMPS"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2001",
                "gene_name": "gremlin 1, DAN family BMP antagonist",
                "omim_gene": [
                    "603054"
                ],
                "alias_name": null,
                "gene_symbol": "GREM1",
                "hgnc_symbol": "GREM1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:33010175-33026870",
                            "ensembl_id": "ENSG00000166923"
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                    "GRch38": {
                        "90": {
                            "location": "15:32717974-32745107",
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                },
                "hgnc_date_symbol_changed": "2004-05-07"
            },
            "penetrance": null,
            "phenotypes": [
                "Hereditary Mixed Polyposis Syndrome",
                "Oligosyndactyly of the hands, Cenani-Linz-like (Dimitrov (2010) J Med Genet 47,569)",
                "Polyposis Syndrome, Hereditary Mixed, 1",
                "Mixed polyposis syndrome (Jaeger (2012) Nat Genet 44,699)",
                "{Colorectal cancer, increased risk, association with}(Peters (2012) Hum Genet 131,217)"
            ],
            "transcript": null,
            "entity_name": "GREM1",
            "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": [
                    "DUP",
                    "MRP1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7326",
                "gene_name": "mutS homolog 3",
                "omim_gene": [
                    "600887"
                ],
                "alias_name": [
                    "Divergent upstream protein",
                    "Mismatch repair protein 1"
                ],
                "gene_symbol": "MSH3",
                "hgnc_symbol": "MSH3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:79950467-80172279",
                            "ensembl_id": "ENSG00000113318"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:80654648-80876460",
                            "ensembl_id": "ENSG00000113318"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1995-09-28"
            },
            "penetrance": null,
            "phenotypes": [],
            "transcript": null,
            "entity_name": "MSH3",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "NHS GMS"
            ],
            "gene_data": {
                "alias": [
                    "FLJ20315",
                    "DKFZp781H0392",
                    "URCC"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:18505",
                "gene_name": "ring finger protein 43",
                "omim_gene": [
                    "612482"
                ],
                "alias_name": null,
                "gene_symbol": "RNF43",
                "hgnc_symbol": "RNF43",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:56429861-56494956",
                            "ensembl_id": "ENSG00000108375"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:58352500-58417595",
                            "ensembl_id": "ENSG00000108375"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2002-04-18"
            },
            "penetrance": null,
            "phenotypes": [],
            "transcript": null,
            "entity_name": "RNF43",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "2",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        }
    ],
    "stats": {
        "number_of_strs": 0,
        "number_of_genes": 17,
        "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": "2020-03-04T11:24:00.030409Z",
    "disease_sub_group": "",
    "relevant_disorders": [
        "R211",
        "R209"
    ],
    "signed_off": "2020-03-04"
}