GET /api/v1/panels/245/?version=2.2
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{
    "id": 245,
    "name": "Adult solid tumours cancer susceptibility",
    "strs": [],
    "genes": [
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Expert list"
            ],
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                    "DP2",
                    "DP3",
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                    "protein phosphatase 1, regulatory subunit 46"
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                "hgnc_symbol": "APC",
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            "penetrance": "Complete",
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                "Familial Adenomatous Polyposis"
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        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Expert list"
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                    "TELO1"
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                "hgnc_id": "HGNC:795",
                "gene_name": "ATM serine/threonine kinase",
                "omim_gene": [
                    "607585"
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                "alias_name": [
                    "TEL1, telomere maintenance 1, homolog (S. cerevisiae)"
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                "hgnc_symbol": "ATM",
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                "ensembl_genes": {
                    "GRch37": {
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                            "location": "11:108093211-108239829",
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                    }
                },
                "hgnc_date_symbol_changed": "1995-07-07"
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            "penetrance": "Complete",
            "phenotypes": [
                "Ataxia Telangiectasia"
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            "confidence_level": "3",
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        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Expert list"
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                    "KIAA0272",
                    "UCHL2"
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                "hgnc_id": "HGNC:950",
                "gene_name": "BRCA1 associated protein 1",
                "omim_gene": [
                    "603089"
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                "alias_name": [
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                "hgnc_symbol": "BAP1",
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                "ensembl_genes": {
                    "GRch37": {
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                    }
                },
                "hgnc_date_symbol_changed": "1998-09-17"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Melanocytic Tumor syndrome, Familial Uveal Melanoma"
            ],
            "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": ""
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        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "ALK3",
                    "CD292"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1076",
                "gene_name": "bone morphogenetic protein receptor type 1A",
                "omim_gene": [
                    "601299"
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                "alias_name": null,
                "gene_symbol": "BMPR1A",
                "hgnc_symbol": "BMPR1A",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:88516407-88692595",
                            "ensembl_id": "ENSG00000107779"
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                    }
                },
                "hgnc_date_symbol_changed": "1994-12-12"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Hereditary Mixed Polyposis Syndrome"
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            "transcript": null,
            "entity_name": "BMPR1A",
            "entity_type": "gene",
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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": [
                "NHS GMS",
                "Expert Review Green",
                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "RNF53",
                    "BRCC1",
                    "PPP1R53",
                    "FANCS"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1100",
                "gene_name": "BRCA1, DNA repair associated",
                "omim_gene": [
                    "113705"
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                "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": {
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                            "location": "17:41196312-41277500",
                            "ensembl_id": "ENSG00000012048"
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                },
                "hgnc_date_symbol_changed": "1991-02-20"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Hereditary Breast and Ovarian Cancer"
            ],
            "transcript": null,
            "entity_name": "BRCA1",
            "entity_type": "gene",
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            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "FAD",
                    "FAD1",
                    "BRCC2",
                    "XRCC11"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1101",
                "gene_name": "BRCA2, DNA repair associated",
                "omim_gene": [
                    "600185"
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                "alias_name": [
                    "BRCA1/BRCA2-containing complex, subunit 2"
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                "gene_symbol": "BRCA2",
                "hgnc_symbol": "BRCA2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "13:32889611-32973805",
                            "ensembl_id": "ENSG00000139618"
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                            "location": "13:32315474-32400266",
                            "ensembl_id": "ENSG00000139618"
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                },
                "hgnc_date_symbol_changed": "1994-10-17"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Hereditary Breast and Ovarian Cancer"
            ],
            "transcript": null,
            "entity_name": "BRCA2",
            "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": [
                    "OF",
                    "BACH1",
                    "FANCJ"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:20473",
                "gene_name": "BRCA1 interacting protein C-terminal helicase 1",
                "omim_gene": [
                    "605882"
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                "alias_name": [
                    "BRCA1/BRCA2-associated helicase 1"
                ],
                "gene_symbol": "BRIP1",
                "hgnc_symbol": "BRIP1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "17:59758627-59940882",
                            "ensembl_id": "ENSG00000136492"
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                    },
                    "GRch38": {
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                            "location": "17:61681266-61863521",
                            "ensembl_id": "ENSG00000136492"
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                    }
                },
                "hgnc_date_symbol_changed": "2003-04-11"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "predisposition to ovarian cancer"
            ],
            "transcript": null,
            "entity_name": "BRIP1",
            "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"
            ],
            "gene_data": {
                "alias": [
                    "RNF55",
                    "c-Cbl"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1541",
                "gene_name": "Cbl proto-oncogene",
                "omim_gene": [
                    "165360"
                ],
                "alias_name": [
                    "oncogene CBL2"
                ],
                "gene_symbol": "CBL",
                "hgnc_symbol": "CBL",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:119076752-119178859",
                            "ensembl_id": "ENSG00000110395"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "11:119206276-119313926",
                            "ensembl_id": "ENSG00000110395"
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                    }
                },
                "hgnc_date_symbol_changed": "1989-06-30"
            },
            "penetrance": null,
            "phenotypes": [
                "Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563"
            ],
            "transcript": null,
            "entity_name": "CBL",
            "entity_type": "gene",
            "publications": [
                "23875798"
            ],
            "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": [
                    "parafibromin",
                    "FIHP"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:16783",
                "gene_name": "cell division cycle 73",
                "omim_gene": [
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                "alias_name": [
                    "Paf1/RNA polymerase II complex component"
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                "gene_symbol": "CDC73",
                "hgnc_symbol": "CDC73",
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                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:193091147-193223031",
                            "ensembl_id": "ENSG00000134371"
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                    },
                    "GRch38": {
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                            "location": "1:193122017-193253901",
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                "hgnc_date_symbol_changed": "2005-07-20"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Hyperparathyroidism-Jaw Tumor Syndrome"
            ],
            "transcript": null,
            "entity_name": "CDC73",
            "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": [
                "NHS GMS",
                "Expert Review Green",
                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "uvomorulin",
                    "CD324"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1748",
                "gene_name": "cadherin 1",
                "omim_gene": [
                    "192090"
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                "alias_name": [
                    "E-Cadherin"
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                "gene_symbol": "CDH1",
                "hgnc_symbol": "CDH1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:68771128-68869451",
                            "ensembl_id": "ENSG00000039068"
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                    "GRch38": {
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                            "location": "16:68737225-68835548",
                            "ensembl_id": "ENSG00000039068"
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                },
                "hgnc_date_symbol_changed": "1986-01-01"
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            "penetrance": "Complete",
            "phenotypes": [
                "Hereditary Diffuse Gastric Cancer, Familial Lobular Breast Cancer"
            ],
            "transcript": null,
            "entity_name": "CDH1",
            "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": [
                "NHS GMS",
                "Expert Review Green",
                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "PSK-J3"
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                "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",
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                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:58141510-58149796",
                            "ensembl_id": "ENSG00000135446"
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                    "GRch38": {
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                            "location": "12:57747727-57756013",
                            "ensembl_id": "ENSG00000135446"
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                },
                "hgnc_date_symbol_changed": "1993-07-28"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Hereditary Melanoma"
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            "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": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments"
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "KIP1",
                    "P27KIP1"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1785",
                "gene_name": "cyclin dependent kinase inhibitor 1B",
                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "CDKN1B",
                "hgnc_symbol": "CDKN1B",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:12867992-12875305",
                            "ensembl_id": "ENSG00000111276"
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                    "GRch38": {
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                            "location": "12:12715058-12722371",
                            "ensembl_id": "ENSG00000111276"
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                "hgnc_date_symbol_changed": "1995-09-14"
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            "penetrance": "Complete",
            "phenotypes": [
                "Thyroid cancer",
                "Pituitary adenoma"
            ],
            "transcript": null,
            "entity_name": "CDKN1B",
            "entity_type": "gene",
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            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "CDK4I",
                    "p16",
                    "INK4a",
                    "MTS1",
                    "CMM2",
                    "ARF",
                    "p19",
                    "p14",
                    "INK4",
                    "p16INK4a",
                    "p19Arf",
                    "p14ARF"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1787",
                "gene_name": "cyclin dependent kinase inhibitor 2A",
                "omim_gene": [
                    "600160"
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                "alias_name": null,
                "gene_symbol": "CDKN2A",
                "hgnc_symbol": "CDKN2A",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:21967751-21995300",
                            "ensembl_id": "ENSG00000147889"
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                    },
                    "GRch38": {
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                },
                "hgnc_date_symbol_changed": "1994-05-19"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Familial Malignant Melanoma and Tumors of the Nervous system, Familial Uveal Melanoma"
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            "transcript": null,
            "entity_name": "CDKN2A",
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            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
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            "gene_data": {
                "alias": [
                    "DDBB",
                    "UV-DDB2",
                    "FLJ34321",
                    "XPE"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2718",
                "gene_name": "damage specific DNA binding protein 2",
                "omim_gene": [
                    "600811"
                ],
                "alias_name": [
                    "xeroderma pigmentosum group E protein",
                    "UV-damaged DNA-binding protein 2",
                    "DDB p48 subunit"
                ],
                "gene_symbol": "DDB2",
                "hgnc_symbol": "DDB2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:47236493-47260767",
                            "ensembl_id": "ENSG00000134574"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "11:47214465-47239240",
                            "ensembl_id": "ENSG00000134574"
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                    }
                },
                "hgnc_date_symbol_changed": "1995-07-06"
            },
            "penetrance": null,
            "phenotypes": [
                "Xeroderma pigmentosum, group E, DDB-negative subtype, 278740"
            ],
            "transcript": null,
            "entity_name": "DDB2",
            "entity_type": "gene",
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                "21107348",
                "26884178",
                "104693112"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "Dicer",
                    "KIAA0928",
                    "K12H4.8-LIKE",
                    "HERNA"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17098",
                "gene_name": "dicer 1, ribonuclease III",
                "omim_gene": [
                    "606241"
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                "alias_name": [
                    "dicer 1, double-stranded RNA-specific endoribonuclease"
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                "gene_symbol": "DICER1",
                "hgnc_symbol": "DICER1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:95552565-95624347",
                            "ensembl_id": "ENSG00000100697"
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                    },
                    "GRch38": {
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                            "location": "14:95086228-95158010",
                            "ensembl_id": "ENSG00000100697"
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                    }
                },
                "hgnc_date_symbol_changed": "2002-05-09"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "DICER1 syndrome, Familial Multinodular Goiter"
            ],
            "transcript": null,
            "entity_name": "DICER1",
            "entity_type": "gene",
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        {
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                "Expert Review Green",
                "Expert list"
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                "Expert Review Green",
                "Expert list"
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                "Expert Review Green",
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                "hgnc_date_symbol_changed": "2001-06-22"
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            "penetrance": "Complete",
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                "Multiple Endocrine Neoplasia"
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            "transcript": null,
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                "Expert list"
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            "transcript": null,
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                "Expert Review Green",
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                "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"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Lynch Syndrome",
                "CMMRD"
            ],
            "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": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "CDC2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9175",
                "gene_name": "DNA polymerase delta 1, catalytic subunit",
                "omim_gene": [
                    "174761"
                ],
                "alias_name": [
                    "CDC2 homolog (S. cerevisiae)"
                ],
                "gene_symbol": "POLD1",
                "hgnc_symbol": "POLD1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:50887461-50921273",
                            "ensembl_id": "ENSG00000062822"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:50384204-50418018",
                            "ensembl_id": "ENSG00000062822"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-02-06"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Colorectal cancer",
                "Endometrial cancer"
            ],
            "transcript": null,
            "entity_name": "POLD1",
            "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": [
                    "POLE1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9177",
                "gene_name": "DNA polymerase epsilon, catalytic subunit",
                "omim_gene": [
                    "174762"
                ],
                "alias_name": [
                    "DNA polymerase epsilon catalytic subunit A"
                ],
                "gene_symbol": "POLE",
                "hgnc_symbol": "POLE",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:133200348-133263951",
                            "ensembl_id": "ENSG00000177084"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:132623753-132687365",
                            "ensembl_id": "ENSG00000177084"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-02-06"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Colorectal cancer"
            ],
            "transcript": null,
            "entity_name": "POLE",
            "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"
            ],
            "gene_data": {
                "alias": [
                    "RAD30A",
                    "XP-V"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9181",
                "gene_name": "DNA polymerase eta",
                "omim_gene": [
                    "603968"
                ],
                "alias_name": null,
                "gene_symbol": "POLH",
                "hgnc_symbol": "POLH",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:43543887-43586701",
                            "ensembl_id": "ENSG00000170734"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:43576150-43615660",
                            "ensembl_id": "ENSG00000170734"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-09-12"
            },
            "penetrance": null,
            "phenotypes": [
                "Xeroderma pigmentosum, variant type, 278750"
            ],
            "transcript": null,
            "entity_name": "POLH",
            "entity_type": "gene",
            "publications": [
                "24877075",
                "11773631",
                "26884178",
                "30511002"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "BCNS"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9585",
                "gene_name": "patched 1",
                "omim_gene": [
                    "601309"
                ],
                "alias_name": null,
                "gene_symbol": "PTCH1",
                "hgnc_symbol": "PTCH1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:98205262-98279339",
                            "ensembl_id": "ENSG00000185920"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:95442980-95517057",
                            "ensembl_id": "ENSG00000185920"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-09-26"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Gorlin syndrome, BCC"
            ],
            "transcript": null,
            "entity_name": "PTCH1",
            "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": [
                    "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"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:87863113-87971930",
                            "ensembl_id": "ENSG00000171862"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-04-21"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Cowden syndrome"
            ],
            "transcript": null,
            "entity_name": "PTEN",
            "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"
            ],
            "gene_data": {
                "alias": [
                    "BPTP3",
                    "SH-PTP2",
                    "SHP-2",
                    "PTP2C",
                    "SHP2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9644",
                "gene_name": "protein tyrosine phosphatase, non-receptor type 11",
                "omim_gene": [
                    "176876"
                ],
                "alias_name": null,
                "gene_symbol": "PTPN11",
                "hgnc_symbol": "PTPN11",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:112856155-112947717",
                            "ensembl_id": "ENSG00000179295"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:112418351-112509913",
                            "ensembl_id": "ENSG00000179295"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-03-03"
            },
            "penetrance": null,
            "phenotypes": [
                "Noonan syndrome"
            ],
            "transcript": null,
            "entity_name": "PTPN11",
            "entity_type": "gene",
            "publications": [
                "23875798"
            ],
            "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": [
                    "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"
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                    }
                },
                "hgnc_date_symbol_changed": "1998-02-26"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Ovarian cancer"
            ],
            "transcript": null,
            "entity_name": "RAD51C",
            "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": [
                    "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"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Ovarian cancer"
            ],
            "transcript": null,
            "entity_name": "RAD51D",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "Raf-1",
                    "c-Raf",
                    "CRAF"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9829",
                "gene_name": "Raf-1 proto-oncogene, serine/threonine kinase",
                "omim_gene": [
                    "164760"
                ],
                "alias_name": [
                    "C-Raf proto-oncogene, serine/threonine kinase"
                ],
                "gene_symbol": "RAF1",
                "hgnc_symbol": "RAF1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:12625100-12705725",
                            "ensembl_id": "ENSG00000132155"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:12583601-12664226",
                            "ensembl_id": "ENSG00000132155"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "penetrance": null,
            "phenotypes": [
                "LEOPARD syndrome 2 611554",
                "Noonan syndrome 5 611553"
            ],
            "transcript": null,
            "entity_name": "RAF1",
            "entity_type": "gene",
            "publications": [
                "23875798"
            ],
            "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": [
                    "RB",
                    "PPP1R130"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9884",
                "gene_name": "RB transcriptional corepressor 1",
                "omim_gene": [
                    "614041"
                ],
                "alias_name": [
                    "prepro-retinoblastoma-associated protein",
                    "protein phosphatase 1, regulatory subunit 130"
                ],
                "gene_symbol": "RB1",
                "hgnc_symbol": "RB1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "13:48877887-49056122",
                            "ensembl_id": "ENSG00000139687"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "13:48303751-48481986",
                            "ensembl_id": "ENSG00000139687"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Retinoblastoma"
            ],
            "transcript": null,
            "entity_name": "RB1",
            "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": [
                    "PTC",
                    "CDHF12",
                    "RET51",
                    "CDHR16"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9967",
                "gene_name": "ret proto-oncogene",
                "omim_gene": [
                    "164761"
                ],
                "alias_name": [
                    "cadherin-related family member 16",
                    "RET receptor tyrosine kinase",
                    "rearranged during transfection"
                ],
                "gene_symbol": "RET",
                "hgnc_symbol": "RET",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:43572475-43625799",
                            "ensembl_id": "ENSG00000165731"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:43077027-43130351",
                            "ensembl_id": "ENSG00000165731"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1990-07-15"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Multiple Endocrine Neoplasia"
            ],
            "transcript": null,
            "entity_name": "RET",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments"
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "bK3184A7.3",
                    "NHL",
                    "DKFZP434C013",
                    "KIAA1088",
                    "RTEL"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:15888",
                "gene_name": "regulator of telomere elongation helicase 1",
                "omim_gene": [
                    "608833"
                ],
                "alias_name": null,
                "gene_symbol": "RTEL1",
                "hgnc_symbol": "RTEL1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "20:62289163-62328416",
                            "ensembl_id": "ENSG00000258366"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "20:63657810-63696253",
                            "ensembl_id": "ENSG00000258366"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-10-29"
            },
            "penetrance": null,
            "phenotypes": [
                "Dyskeratosis congenita, autosomal recessive 5 615190",
                "615190 DC type 4 and 5",
                "616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related",
                "Dyskeratosis congenita, autosomal dominant 4, 615190",
                "Dyskeratosis congenita, autosomal recessive 5, 615190",
                "615190 Dyskeratosis congenita",
                "616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3"
            ],
            "transcript": null,
            "entity_name": "RTEL1",
            "entity_type": "gene",
            "publications": [
                "24582487"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "FP",
                    "SDHF"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10680",
                "gene_name": "succinate dehydrogenase complex flavoprotein subunit A",
                "omim_gene": [
                    "600857"
                ],
                "alias_name": [
                    "succinate dehydrogenase [ubiquinone] flavoprotein subunit",
                    "flavoprotein subunit of complex II"
                ],
                "gene_symbol": "SDHA",
                "hgnc_symbol": "SDHA",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:218356-256815",
                            "ensembl_id": "ENSG00000073578"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:218241-256700",
                            "ensembl_id": "ENSG00000073578"
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                    }
                },
                "hgnc_date_symbol_changed": "1995-10-24"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "gastrointestinal stromal tumors"
            ],
            "transcript": null,
            "entity_name": "SDHA",
            "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": [
                    "FLJ20487",
                    "SDH5"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:26034",
                "gene_name": "succinate dehydrogenase complex assembly factor 2",
                "omim_gene": [
                    "613019"
                ],
                "alias_name": null,
                "gene_symbol": "SDHAF2",
                "hgnc_symbol": "SDHAF2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:61197514-61215001",
                            "ensembl_id": "ENSG00000167985"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:61430042-61447529",
                            "ensembl_id": "ENSG00000167985"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2009-08-10"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Familial Paraganglioma and Pheochromocytoma"
            ],
            "transcript": null,
            "entity_name": "SDHAF2",
            "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: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": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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