GET /api/v1/panels/559/?format=api
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Allow: GET, HEAD, OPTIONS
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{
    "id": 559,
    "hash_id": null,
    "name": "Pigmentary skin disorders",
    "disease_group": "",
    "disease_sub_group": "",
    "status": "public",
    "version": "1.3",
    "version_created": "2020-02-19T11:49:50.034113Z",
    "relevant_disorders": [
        "R236"
    ],
    "stats": {
        "number_of_genes": 120,
        "number_of_strs": 0,
        "number_of_regions": 1
    },
    "types": [
        {
            "name": "GMS Rare Disease Virtual",
            "slug": "gms-rare-disease-virtual",
            "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
        },
        {
            "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": "Component Of Super Panel",
            "slug": "component-of-super-panel",
            "description": "This panel is a component of a Super Panel"
        },
        {
            "name": "GMS signed-off",
            "slug": "gms-signed-off",
            "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
        }
    ],
    "genes": [
        {
            "gene_data": {
                "alias": [
                    "EST45597",
                    "umat",
                    "MTABC3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:47",
                "gene_name": "ATP binding cassette subfamily B member 6 (Langereis blood group)",
                "omim_gene": [
                    "605452"
                ],
                "alias_name": [
                    "ATP-binding cassette half-transporter"
                ],
                "gene_symbol": "ABCB6",
                "hgnc_symbol": "ABCB6",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:220074490-220083712",
                            "ensembl_id": "ENSG00000115657"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:219209768-219218990",
                            "ensembl_id": "ENSG00000115657"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-10-26"
            },
            "entity_type": "gene",
            "entity_name": "ABCB6",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "23519333"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3, 615402"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "kuz",
                    "MADM",
                    "HsT18717",
                    "CD156c"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:188",
                "gene_name": "ADAM metallopeptidase domain 10",
                "omim_gene": [
                    "602192"
                ],
                "alias_name": null,
                "gene_symbol": "ADAM10",
                "hgnc_symbol": "ADAM10",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:58887403-59042177",
                            "ensembl_id": "ENSG00000137845"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "15:58588807-58749978",
                            "ensembl_id": "ENSG00000137845"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-03-21"
            },
            "entity_type": "gene",
            "entity_name": "ADAM10",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "23666529"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "Reticulate acropigmentation of Kitamura"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "ADAR1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:225",
                "gene_name": "adenosine deaminase, RNA specific",
                "omim_gene": [
                    "146920"
                ],
                "alias_name": null,
                "gene_symbol": "ADAR",
                "hgnc_symbol": "ADAR",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:154554538-154600475",
                            "ensembl_id": "ENSG00000160710"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:154582062-154627999",
                            "ensembl_id": "ENSG00000160710"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1995-12-12"
            },
            "entity_type": "gene",
            "entity_name": "ADAR",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "12916015",
                "23001123"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "AGS6",
                "DYSCHROMATOSIS SYMMETRICA HEREDITARIA",
                "DSH, AICARDI-GOUTIERES SYNDROME 6",
                "Dyschromatosis symmetrica hereditaria (AKA reticulate acropigmentation of Dohi)"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "ADTB3A",
                    "HPS2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:566",
                "gene_name": "adaptor related protein complex 3 beta 1 subunit",
                "omim_gene": [
                    "603401"
                ],
                "alias_name": null,
                "gene_symbol": "AP3B1",
                "hgnc_symbol": "AP3B1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:77296349-77590579",
                            "ensembl_id": "ENSG00000132842"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:78000525-78294755",
                            "ensembl_id": "ENSG00000132842"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2000-09-01"
            },
            "entity_type": "gene",
            "entity_name": "AP3B1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "10024875",
                "14566336"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "HERMANSKY-PUDLAK SYNDROME 2",
                "Hermansky-Pudlak syndrome",
                "HPS2"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:719",
                "gene_name": "arylsulfatase E (chondrodysplasia punctata 1)",
                "omim_gene": [
                    "300180"
                ],
                "alias_name": null,
                "gene_symbol": "ARSE",
                "hgnc_symbol": "ARSE",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:2852699-2886286",
                            "ensembl_id": "ENSG00000157399"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:2934632-2968310",
                            "ensembl_id": "ENSG00000157399"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1995-04-26"
            },
            "entity_type": "gene",
            "entity_name": "ARSE",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "7720070"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE",
                "CDPX1",
                "Chondrodysplasia punctata"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "tags": [
                "new-gene-name"
            ],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "hucep-6",
                    "KIAA0272",
                    "UCHL2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:950",
                "gene_name": "BRCA1 associated protein 1",
                "omim_gene": [
                    "603089"
                ],
                "alias_name": [
                    "ubiquitin carboxy-terminal hydrolase"
                ],
                "gene_symbol": "BAP1",
                "hgnc_symbol": "BAP1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:52435029-52444366",
                            "ensembl_id": "ENSG00000163930"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:52401013-52410350",
                            "ensembl_id": "ENSG00000163930"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-09-17"
            },
            "entity_type": "gene",
            "entity_name": "BAP1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "21874003"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "TPDS",
                "Melanoma susceptility",
                "TUMOR PREDISPOSITION SYNDROME"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "BRAF1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1097",
                "gene_name": "B-Raf proto-oncogene, serine/threonine kinase",
                "omim_gene": [
                    "164757"
                ],
                "alias_name": null,
                "gene_symbol": "BRAF",
                "hgnc_symbol": "BRAF",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:140419127-140624564",
                            "ensembl_id": "ENSG00000157764"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:140719327-140924764",
                            "ensembl_id": "ENSG00000157764"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-07-16"
            },
            "entity_type": "gene",
            "entity_name": "BRAF",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "16474404",
                "19206169"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "Cardio-facio-cutaneous syndrome",
                "Syringocystadenoma papilliferum",
                "Melanocytic naevi",
                "LPRD3, CARDIOFACIOCUTANEOUS SYNDROME 1",
                "CFC1",
                "LEOPARD SYNDROME 3"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "RNF53",
                    "BRCC1",
                    "PPP1R53",
                    "FANCS"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1100",
                "gene_name": "BRCA1, DNA repair associated",
                "omim_gene": [
                    "113705"
                ],
                "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": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:41196312-41277500",
                            "ensembl_id": "ENSG00000012048"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:43044295-43170245",
                            "ensembl_id": "ENSG00000012048"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-02-20"
            },
            "entity_type": "gene",
            "entity_name": "BRCA1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "29712865"
            ],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
            ],
            "phenotypes": [
                "FANCS",
                "FANCONI ANEMIA, COMPLEMENTATION GROUP S"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FAD",
                    "FAD1",
                    "BRCC2",
                    "XRCC11"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1101",
                "gene_name": "BRCA2, DNA repair associated",
                "omim_gene": [
                    "600185"
                ],
                "alias_name": [
                    "BRCA1/BRCA2-containing complex, subunit 2"
                ],
                "gene_symbol": "BRCA2",
                "hgnc_symbol": "BRCA2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "13:32889611-32973805",
                            "ensembl_id": "ENSG00000139618"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "13:32315474-32400266",
                            "ensembl_id": "ENSG00000139618"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-10-17"
            },
            "entity_type": "gene",
            "entity_name": "BRCA2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "12065746"
            ],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
            ],
            "phenotypes": [
                "FANCD1",
                "FANCONI ANEMIA, COMPLEMENTATION GROUP D1"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "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"
                ],
                "alias_name": [
                    "BRCA1/BRCA2-associated helicase 1"
                ],
                "gene_symbol": "BRIP1",
                "hgnc_symbol": "BRIP1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:59758627-59940882",
                            "ensembl_id": "ENSG00000136492"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:61681266-61863521",
                            "ensembl_id": "ENSG00000136492"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-04-11"
            },
            "entity_type": "gene",
            "entity_name": "BRIP1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "16116424"
            ],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
            ],
            "phenotypes": [
                "FANCJ",
                "FANCONI ANEMIA, COMPLEMENTATION GROUP J"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "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"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:119206276-119313926",
                            "ensembl_id": "ENSG00000110395"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1989-06-30"
            },
            "entity_type": "gene",
            "entity_name": "CBL",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "20619386"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "NSLL",
                "NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA",
                "Noonan-like disorder"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "PSK-J3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1773",
                "gene_name": "cyclin dependent kinase 4",
                "omim_gene": [
                    "123829"
                ],
                "alias_name": null,
                "gene_symbol": "CDK4",
                "hgnc_symbol": "CDK4",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:58141510-58149796",
                            "ensembl_id": "ENSG00000135446"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:57747727-57756013",
                            "ensembl_id": "ENSG00000135446"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-07-28"
            },
            "entity_type": "gene",
            "entity_name": "CDK4",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "15880589",
                "8528263"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3",
                "Melanoma susceptibility",
                "CMM3"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CDK4I",
                    "p16",
                    "INK4a",
                    "MTS1",
                    "CMM2",
                    "ARF",
                    "p19",
                    "p14",
                    "INK4",
                    "p16INK4a",
                    "p19Arf",
                    "p14ARF"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1787",
                "gene_name": "cyclin dependent kinase inhibitor 2A",
                "omim_gene": [
                    "600160"
                ],
                "alias_name": null,
                "gene_symbol": "CDKN2A",
                "hgnc_symbol": "CDKN2A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:21967751-21995300",
                            "ensembl_id": "ENSG00000147889"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:21967753-21995301",
                            "ensembl_id": "ENSG00000147889"
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                    }
                },
                "hgnc_date_symbol_changed": "1994-05-19"
            },
            "entity_type": "gene",
            "entity_name": "CDKN2A",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "20132244"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2",
                "CMM2",
                "Melanoma susceptibility"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "SIP2-28",
                    "CIB",
                    "KIP"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:16920",
                "gene_name": "calcium and integrin binding 1",
                "omim_gene": [
                    "602293"
                ],
                "alias_name": [
                    "calmyrin"
                ],
                "gene_symbol": "CIB1",
                "hgnc_symbol": "CIB1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:90773207-90777279",
                            "ensembl_id": "ENSG00000185043"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "15:90229975-90234047",
                            "ensembl_id": "ENSG00000185043"
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                    }
                },
                "hgnc_date_symbol_changed": "2002-05-08"
            },
            "entity_type": "gene",
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                ],
                "alias_name": null,
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                "15590700"
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                "NHS GMS",
                "Expert Review Green"
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                "ADHR, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2",
                "HFTC2",
                "HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
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                "omim_gene": [
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                ],
                "gene_symbol": "GALNT3",
                "hgnc_symbol": "GALNT3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                        "82": {
                            "location": "2:166604101-166651192",
                            "ensembl_id": "ENSG00000115339"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:165747591-165794682",
                            "ensembl_id": "ENSG00000115339"
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                    }
                },
                "hgnc_date_symbol_changed": "1996-10-26"
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            "entity_type": "gene",
            "entity_name": "GALNT3",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "15133511"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "HFTC1",
                "Familial tumoural calcinosis",
                "TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
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                    "ODD",
                    "ODOD",
                    "SDTY3"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4274",
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                "omim_gene": [
                    "121014"
                ],
                "alias_name": [
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                    "connexin 43"
                ],
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                "hgnc_symbol": "GJA1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                        "82": {
                            "location": "6:121756838-121770873",
                            "ensembl_id": "ENSG00000152661"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:121435692-121449727",
                            "ensembl_id": "ENSG00000152661"
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                    }
                },
                "hgnc_date_symbol_changed": "1990-08-03"
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            "entity_type": "gene",
            "entity_name": "GJA1",
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            "mode_of_pathogenicity": "",
            "publications": [
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            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3, 617525"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CX31"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4285",
                "gene_name": "gap junction protein beta 3",
                "omim_gene": [
                    "603324"
                ],
                "alias_name": [
                    "connexin 31"
                ],
                "gene_symbol": "GJB3",
                "hgnc_symbol": "GJB3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:35246790-35251970",
                            "ensembl_id": "ENSG00000188910"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "1:34781189-34786369",
                            "ensembl_id": "ENSG00000188910"
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                    }
                },
                "hgnc_date_symbol_changed": "1991-07-12"
            },
            "entity_type": "gene",
            "entity_name": "GJB3",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "9843209"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1",
                "EKVP1",
                "Erythrokeratodermia variabilis"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CX30.3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4286",
                "gene_name": "gap junction protein beta 4",
                "omim_gene": [
                    "605425"
                ],
                "alias_name": [
                    "connexin 30.3"
                ],
                "gene_symbol": "GJB4",
                "hgnc_symbol": "GJB4",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:35225342-35229325",
                            "ensembl_id": "ENSG00000189433"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:34759741-34763724",
                            "ensembl_id": "ENSG00000189433"
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                    }
                },
                "hgnc_date_symbol_changed": "1998-08-06"
            },
            "entity_type": "gene",
            "entity_name": "GJB4",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "12648223"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "Erythrokeratodermia variabilis",
                "EKVP2",
                "ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
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                    "HGFIN"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4462",
                "gene_name": "glycoprotein nmb",
                "omim_gene": [
                    "604368"
                ],
                "alias_name": [
                    "transmembrane glycoprotein",
                    "glycoprotein NMB",
                    "glycoprotein nmb-like protein",
                    "osteoactivin",
                    "hematopoietic growth factor inducible neurokinin-1",
                    "glycoprotein nonmetastatic melanoma protein B"
                ],
                "gene_symbol": "GPNMB",
                "hgnc_symbol": "GPNMB",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:23275586-23314727",
                            "ensembl_id": "ENSG00000136235"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:23235967-23275108",
                            "ensembl_id": "ENSG00000136235"
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                    }
                },
                "hgnc_date_symbol_changed": "1999-10-26"
            },
            "entity_type": "gene",
            "entity_name": "GPNMB",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "29336782"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 3, 617920"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "BLOC3S1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:5163",
                "gene_name": "HPS1, biogenesis of lysosomal organelles complex 3 subunit 1",
                "omim_gene": [
                    "604982"
                ],
                "alias_name": null,
                "gene_symbol": "HPS1",
                "hgnc_symbol": "HPS1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:100175955-100206684",
                            "ensembl_id": "ENSG00000107521"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:98416198-98446947",
                            "ensembl_id": "ENSG00000107521"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2002-05-01"
            },
            "entity_type": "gene",
            "entity_name": "HPS1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "9497254"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "Hermansky-Pudlak syndrome",
                "HERMANSKY-PUDLAK SYNDROME 1",
                "HPS1"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:5173",
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                "omim_gene": [
                    "190020"
                ],
                "alias_name": null,
                "gene_symbol": "HRAS",
                "hgnc_symbol": "HRAS",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:532242-537287",
                            "ensembl_id": "ENSG00000174775"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "11:532242-537287",
                            "ensembl_id": "ENSG00000174775"
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                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "HRAS",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "16170316"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "CSTLO",
                "Costello syndrome",
                "Phakomatosis pigmentokeratotica",
                "Epidermal naevi",
                "Woolly hair",
                "Schimmelpenning syndrome",
                "COSTELLO SYNDROME"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CD117",
                    "SCFR",
                    "C-Kit"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6342",
                "gene_name": "KIT proto-oncogene receptor tyrosine kinase",
                "omim_gene": [
                    "164920"
                ],
                "alias_name": null,
                "gene_symbol": "KIT",
                "hgnc_symbol": "KIT",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:55524085-55606881",
                            "ensembl_id": "ENSG00000157404"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "4:54657918-54740715",
                            "ensembl_id": "ENSG00000157404"
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                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "KIT",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "9990072",
                "1370874"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
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            "phenotypes": [
                "PBT",
                "Piebaldism",
                "MASTC, PIEBALD TRAIT",
                "Mast cell disease",
                "MASTOCYTOSIS, CUTANEOUS"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
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                    "SCF",
                    "SF",
                    "Kitl",
                    "KL-1",
                    "FPH2",
                    "SLF",
                    "DFNA69"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6343",
                "gene_name": "KIT ligand",
                "omim_gene": [
                    "184745"
                ],
                "alias_name": [
                    "mast cell growth factor",
                    "stem cell factor",
                    "steel factor",
                    "familial progressive hyperpigmentation 2"
                ],
                "gene_symbol": "KITLG",
                "hgnc_symbol": "KITLG",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:88886570-88974628",
                            "ensembl_id": "ENSG00000049130"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "12:88492793-88580851",
                            "ensembl_id": "ENSG00000049130"
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                    }
                },
                "hgnc_date_symbol_changed": "1991-06-04"
            },
            "entity_type": "gene",
            "entity_name": "KITLG",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "21368769"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE",
                "Progressive hyper-and hypopigmentation",
                "Blaschko-linear hypopigmentation",
                "FPHH"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "KRAS1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6407",
                "gene_name": "KRAS proto-oncogene, GTPase",
                "omim_gene": [
                    "190070"
                ],
                "alias_name": null,
                "gene_symbol": "KRAS",
                "hgnc_symbol": "KRAS",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:25357723-25403870",
                            "ensembl_id": "ENSG00000133703"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:25204789-25250936",
                            "ensembl_id": "ENSG00000133703"
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                    }
                },
                "hgnc_date_symbol_changed": "2005-01-24"
            },
            "entity_type": "gene",
            "entity_name": "KRAS",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
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                "19396835",
                "17468812"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "NOONAN SYNDROME 3, CARDIOFACIOCUTANEOUS SYNDROME 2",
                "NOONAN SYNDROME 3, 609942",
                "CFC2"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "K10",
                    "CK10"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6413",
                "gene_name": "keratin 10",
                "omim_gene": [
                    "148080"
                ],
                "alias_name": [
                    "cytokeratin 10",
                    "epidermolytic hyperkeratosis"
                ],
                "gene_symbol": "KRT10",
                "hgnc_symbol": "KRT10",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:38974369-38978847",
                            "ensembl_id": "ENSG00000186395"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "17:40818117-40822595",
                            "ensembl_id": "ENSG00000186395"
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                    }
                },
                "hgnc_date_symbol_changed": "1988-08-12"
            },
            "entity_type": "gene",
            "entity_name": "KRT10",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "7508181"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "CRIE",
                "Ichythosis with confetti",
                "Pachyonychia congenita",
                "Palmoplantar keratoderma",
                "Epidermolytic hyperkeratosis",
                "ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6416",
                "gene_name": "keratin 14",
                "omim_gene": [
                    "148066"
                ],
                "alias_name": [
                    "epidermolysis bullosa simplex, Dowling-Meara, Koebner"
                ],
                "gene_symbol": "KRT14",
                "hgnc_symbol": "KRT14",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:39738531-39743173",
                            "ensembl_id": "ENSG00000186847"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "17:41582279-41586921",
                            "ensembl_id": "ENSG00000186847"
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                    }
                },
                "hgnc_date_symbol_changed": "1992-04-09"
            },
            "entity_type": "gene",
            "entity_name": "KRT14",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "16960809"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "DPR",
                "Epidermolysis bullosa",
                "DERMATOPATHIA PIGMENTOSA RETICULARIS",
                "Naegeli-Franceschetti-Jadassohn syndrome",
                "Dermatopathia pigmentosa reticularis"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "KRT5A"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6442",
                "gene_name": "keratin 5",
                "omim_gene": [
                    "148040"
                ],
                "alias_name": null,
                "gene_symbol": "KRT5",
                "hgnc_symbol": "KRT5",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:52908359-52914471",
                            "ensembl_id": "ENSG00000186081"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "12:52514575-52520687",
                            "ensembl_id": "ENSG00000186081"
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                    }
                },
                "hgnc_date_symbol_changed": "1991-09-12"
            },
            "entity_type": "gene",
            "entity_name": "KRT5",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "16465624"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "DOWLING-DEGOS DISEASE 1",
                "DDD1",
                "Epidermolysis bullosa",
                "Dowling-Degos disease"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CHS"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1968",
                "gene_name": "lysosomal trafficking regulator",
                "omim_gene": [
                    "606897"
                ],
                "alias_name": null,
                "gene_symbol": "LYST",
                "hgnc_symbol": "LYST",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:235824341-236046940",
                            "ensembl_id": "ENSG00000143669"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:235661041-235883640",
                            "ensembl_id": "ENSG00000143669"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-12-10"
            },
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            "entity_name": "LYST",
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            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "8896560"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "Chediak-Higashi syndrome",
                "CHEDIAK-HIGASHI SYNDROME",
                "CHS"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
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                    "BTBD29"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6742",
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                "omim_gene": [
                    "600574"
                ],
                "alias_name": null,
                "gene_symbol": "LZTR1",
                "hgnc_symbol": "LZTR1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "22:21333751-21353327",
                            "ensembl_id": "ENSG00000099949"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "22:20979462-20999038",
                            "ensembl_id": "ENSG00000099949"
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                    }
                },
                "hgnc_date_symbol_changed": "1999-10-19"
            },
            "entity_type": "gene",
            "entity_name": "LZTR1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "29469822",
                "25795793"
            ],
            "evidence": [
                "Expert Review",
                "Expert Review Green"
            ],
            "phenotypes": [
                "NOONAN SYNDROME 10",
                "NS2",
                "NS10, NOONAN SYNDROME 2",
                "Schwannomatosis-2, susceptibility to 615670",
                "Noonan syndrome 10 616564"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
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                    "MEK1",
                    "MAPKK1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6840",
                "gene_name": "mitogen-activated protein kinase kinase 1",
                "omim_gene": [
                    "176872"
                ],
                "alias_name": null,
                "gene_symbol": "MAP2K1",
                "hgnc_symbol": "MAP2K1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:66679155-66784650",
                            "ensembl_id": "ENSG00000169032"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "15:66386817-66492312",
                            "ensembl_id": "ENSG00000169032"
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                    }
                },
                "hgnc_date_symbol_changed": "1993-11-05"
            },
            "entity_type": "gene",
            "entity_name": "MAP2K1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "16439621"
            ],
            "evidence": [
                "Radboud University Medical Center, Nijmegen",
                "Expert Review Green",
                "Eligibility statement prior genetic testing",
                "UKGTN"
            ],
            "phenotypes": [
                "Cardiofaciocutaneous Syndrome",
                "CFC syndrome",
                "LEOPARD syndrome",
                "CFC3",
                "Cardio-Facio-Cutaneous syndrome",
                "?Noonan syndrome",
                "Cardiofaciocutaneous syndrome 3",
                "CARDIOFACIOCUTANEOUS SYNDROME 3"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
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                    "MEK2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6842",
                "gene_name": "mitogen-activated protein kinase kinase 2",
                "omim_gene": [
                    "601263"
                ],
                "alias_name": null,
                "gene_symbol": "MAP2K2",
                "hgnc_symbol": "MAP2K2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:4090319-4124126",
                            "ensembl_id": "ENSG00000126934"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:4090321-4124129",
                            "ensembl_id": "ENSG00000126934"
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                    }
                },
                "hgnc_date_symbol_changed": "1993-11-05"
            },
            "entity_type": "gene",
            "entity_name": "MAP2K2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "18042262"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "CARDIOFACIOCUTANEOUS SYNDROME 4, 615280"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
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                    "MI",
                    "bHLHe32"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7105",
                "gene_name": "melanogenesis associated transcription factor",
                "omim_gene": [
                    "156845"
                ],
                "alias_name": [
                    "homolog of mouse microphthalmia"
                ],
                "gene_symbol": "MITF",
                "hgnc_symbol": "MITF",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:69788586-70017488",
                            "ensembl_id": "ENSG00000187098"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:69739435-69968337",
                            "ensembl_id": "ENSG00000187098"
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                    }
                },
                "hgnc_date_symbol_changed": "1993-10-27"
            },
            "entity_type": "gene",
            "entity_name": "MITF",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "27889061",
                "7874167"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "COMMAD, WAARDENBURG SYNDROME, TYPE 2A",
                "COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS",
                "Waardenburg syndrome",
                "WS2A"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
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                    "FCC2",
                    "HNPCC2"
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                "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"
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                    }
                },
                "hgnc_date_symbol_changed": "1993-11-24"
            },
            "entity_type": "gene",
            "entity_name": "MLH1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "17440981"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "MISMATCH REPAIR CANCER SYNDROME, 276300"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
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                    "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"
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                    }
                },
                "hgnc_date_symbol_changed": "1993-07-28"
            },
            "entity_type": "gene",
            "entity_name": "MSH2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "16372347"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "MISMATCH REPAIR CANCER SYNDROME, 276300"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7329",
                "gene_name": "mutS homolog 6",
                "omim_gene": [
                    "600678"
                ],
                "alias_name": null,
                "gene_symbol": "MSH6",
                "hgnc_symbol": "MSH6",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:47922669-48037240",
                            "ensembl_id": "ENSG00000116062"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:47695530-47810101",
                            "ensembl_id": "ENSG00000116062"
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                    }
                },
                "hgnc_date_symbol_changed": "1995-08-29"
            },
            "entity_type": "gene",
            "entity_name": "MSH6",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "16283678"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "MISMATCH REPAIR CANCER SYNDROME, 276300"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "RAFT1",
                    "RAPT1",
                    "FLJ44809"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3942",
                "gene_name": "mechanistic target of rapamycin kinase",
                "omim_gene": [
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                ],
                "alias_name": [
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                    "rapamycin target protein",
                    "FKBP12-rapamycin complex-associated protein 1",
                    "FKBP-rapamycin associated protein",
                    "rapamycin associated protein FRAP2",
                    "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)",
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                    "mammalian target of rapamycin"
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                "hgnc_symbol": "MTOR",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:11166592-11322564",
                            "ensembl_id": "ENSG00000198793"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "1:11106535-11262507",
                            "ensembl_id": "ENSG00000198793"
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                    }
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                "hgnc_date_symbol_changed": "2009-05-29"
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            "entity_type": "gene",
            "entity_name": "MTOR",
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            "mode_of_pathogenicity": "",
            "publications": [
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            "evidence": [
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                "NHS GMS",
                "Expert Review Green"
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                "SMITH-KINGSMORE SYNDROME",
                "Hypomelanosis of Ito/Blaschko-linear hypopigmentation"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
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                    "GS1",
                    "MYR12"
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                "gene_name": "myosin VA",
                "omim_gene": [
                    "160777"
                ],
                "alias_name": [
                    "myosin, heavy polypeptide kinase",
                    "myosin heavy chain 12",
                    "myoxin",
                    "myosin V"
                ],
                "gene_symbol": "MYO5A",
                "hgnc_symbol": "MYO5A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:52599480-52821247",
                            "ensembl_id": "ENSG00000197535"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "15:52307283-52529050",
                            "ensembl_id": "ENSG00000197535"
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                    }
                },
                "hgnc_date_symbol_changed": "1993-09-23"
            },
            "entity_type": "gene",
            "entity_name": "MYO5A",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "9207796"
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            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
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            "phenotypes": [
                "GRISCELLI SYNDROME, TYPE 1",
                "GS1",
                "Griscelli syndrome"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7765",
                "gene_name": "neurofibromin 1",
                "omim_gene": [
                    "613113"
                ],
                "alias_name": [
                    "neurofibromatosis",
                    "von Recklinghausen disease",
                    "Watson disease"
                ],
                "gene_symbol": "NF1",
                "hgnc_symbol": "NF1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:29421945-29709134",
                            "ensembl_id": "ENSG00000196712"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "17:31094927-31382116",
                            "ensembl_id": "ENSG00000196712"
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                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
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            "entity_type": "gene",
            "entity_name": "NF1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
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            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "NEUROFIBROMATOSIS, TYPE I",
                "NF1",
                "Neurofibromatosis type I"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
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                    "ACN",
                    "SCH",
                    "BANF"
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                "biotype": "protein_coding",
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                "gene_name": "neurofibromin 2",
                "omim_gene": [
                    "607379"
                ],
                "alias_name": [
                    "moesin-ezrin-radixin like",
                    "schwannomin"
                ],
                "gene_symbol": "NF2",
                "hgnc_symbol": "NF2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "22:29999545-30094587",
                            "ensembl_id": "ENSG00000186575"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "22:29603556-29698598",
                            "ensembl_id": "ENSG00000186575"
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                    }
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                "hgnc_date_symbol_changed": "1992-01-01"
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            "entity_type": "gene",
            "entity_name": "NF2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "7913580"
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            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
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                "Neurofibromatosis type 2",
                "NEUROFIBROMATOSIS, TYPE II"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "N-ras"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7989",
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                "omim_gene": [
                    "164790"
                ],
                "alias_name": null,
                "gene_symbol": "NRAS",
                "hgnc_symbol": "NRAS",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:115247090-115259515",
                            "ensembl_id": "ENSG00000213281"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "1:114704469-114716894",
                            "ensembl_id": "ENSG00000213281"
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                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "NRAS",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "19966803"
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            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "Congenital melanocytic naevus syndrome",
                "Melanocytic naevi",
                "NOONAN SYNDROME 6",
                "Noonan syndrome",
                "NS6"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "BEY2",
                    "EYCL",
                    "BEY",
                    "BEY1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8101",
                "gene_name": "OCA2 melanosomal transmembrane protein",
                "omim_gene": [
                    "611409"
                ],
                "alias_name": [
                    "melanocyte-specific transporter protein",
                    "P-protein"
                ],
                "gene_symbol": "OCA2",
                "hgnc_symbol": "OCA2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:28000021-28344504",
                            "ensembl_id": "ENSG00000104044"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "15:27754875-28099358",
                            "ensembl_id": "ENSG00000104044"
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                    }
                },
                "hgnc_date_symbol_changed": "1993-02-05"
            },
            "entity_type": "gene",
            "entity_name": "OCA2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "8302318"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
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                "OCA2",
                "Oculocutaneous albinism",
                "ALBINISM, OCULOCUTANEOUS, TYPE II"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "OSMRB"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8507",
                "gene_name": "oncostatin M receptor",
                "omim_gene": [
                    "601743"
                ],
                "alias_name": null,
                "gene_symbol": "OSMR",
                "hgnc_symbol": "OSMR",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:38845960-38945698",
                            "ensembl_id": "ENSG00000145623"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:38845858-38945596",
                            "ensembl_id": "ENSG00000145623"
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                    }
                },
                "hgnc_date_symbol_changed": "1999-02-17"
            },
            "entity_type": "gene",
            "entity_name": "OSMR",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "18179886"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "Amyloidosis cutis",
                "PLCA1",
                "AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
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                    "FANCN"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:26144",
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                "omim_gene": [
                    "610355"
                ],
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                    "Fanconi anemia, complementation group N"
                ],
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                "hgnc_symbol": "PALB2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                        "82": {
                            "location": "16:23614488-23652631",
                            "ensembl_id": "ENSG00000083093"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "16:23603160-23641310",
                            "ensembl_id": "ENSG00000083093"
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                    }
                },
                "hgnc_date_symbol_changed": "2007-01-15"
            },
            "entity_type": "gene",
            "entity_name": "PALB2",
            "confidence_level": "3",
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            "mode_of_pathogenicity": "",
            "publications": [
                "17200672"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "Fanconi Anaemia",
                "FANCN",
                "FANCONI ANEMIA, COMPLEMENTATION GROUP N"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
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                    "HUP2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8617",
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                "omim_gene": [
                    "606597"
                ],
                "alias_name": null,
                "gene_symbol": "PAX3",
                "hgnc_symbol": "PAX3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:223064607-223163715",
                            "ensembl_id": "ENSG00000135903"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:222199888-222298996",
                            "ensembl_id": "ENSG00000135903"
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                    }
                },
                "hgnc_date_symbol_changed": "1992-01-14"
            },
            "entity_type": "gene",
            "entity_name": "PAX3",
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            "penetrance": null,
            "mode_of_pathogenicity": "",
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                "8533800",
                "8447316"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "WAARDENBURG SYNDROME, TYPE 1",
                "WS3",
                "Waardenburg syndrome",
                "WS1, WAARDENBURG SYNDROME, TYPE 3"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "PI3K"
                ],
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                "hgnc_id": "HGNC:8975",
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                "omim_gene": [
                    "171834"
                ],
                "alias_name": null,
                "gene_symbol": "PIK3CA",
                "hgnc_symbol": "PIK3CA",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:178865902-178957881",
                            "ensembl_id": "ENSG00000121879"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:179148114-179240093",
                            "ensembl_id": "ENSG00000121879"
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                    }
                },
                "hgnc_date_symbol_changed": "1994-07-15"
            },
            "entity_type": "gene",
            "entity_name": "PIK3CA",
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            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "MCAP",
                "PIK3CA-related overgrowth syndromes",
                "MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME",
                "Vascular malformations"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
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                    "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"
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                    }
                },
                "hgnc_date_symbol_changed": "1994-12-13"
            },
            "entity_type": "gene",
            "entity_name": "PMS2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
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            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "MISMATCH REPAIR CANCER SYNDROME, 276300"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
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                    "O-FUT",
                    "O-Fuc-T",
                    "KIAA0180",
                    "FUT12"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14988",
                "gene_name": "protein O-fucosyltransferase 1",
                "omim_gene": [
                    "607491"
                ],
                "alias_name": [
                    "peptide-O-fucosyltransferase",
                    "GDP-fucose protein O-fucosyltransferase 1"
                ],
                "gene_symbol": "POFUT1",
                "hgnc_symbol": "POFUT1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "20:30795683-30826470",
                            "ensembl_id": "ENSG00000101346"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "20:32207880-32238667",
                            "ensembl_id": "ENSG00000101346"
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                    }
                },
                "hgnc_date_symbol_changed": "2001-10-29"
            },
            "entity_type": "gene",
            "entity_name": "POFUT1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "23684010"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
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                "DOWLING-DEGOS DISEASE 2",
                "DDD2",
                "Dowling-Degos disease"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
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                "alias": [
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                    "MGC32995",
                    "9630046K23Rik",
                    "MDSRP",
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                    "KDELCL1",
                    "Rumi"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:22954",
                "gene_name": "protein O-glucosyltransferase 1",
                "omim_gene": [
                    "615618"
                ],
                "alias_name": [
                    "KDELC family like 1"
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                "gene_symbol": "POGLUT1",
                "hgnc_symbol": "POGLUT1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                        "82": {
                            "location": "3:119187785-119213555",
                            "ensembl_id": "ENSG00000163389"
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                    },
                    "GRch38": {
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                            "location": "3:119468938-119494708",
                            "ensembl_id": "ENSG00000163389"
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                    }
                },
                "hgnc_date_symbol_changed": "2010-09-29"
            },
            "entity_type": "gene",
            "entity_name": "POGLUT1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "24387993"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "DDD4",
                "DOWLING-DEGOS DISEASE 4",
                "Dowling-Degos disease"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "MG61",
                    "PORC",
                    "PPN",
                    "por"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17652",
                "gene_name": "porcupine O-acyltransferase",
                "omim_gene": [
                    "300651"
                ],
                "alias_name": null,
                "gene_symbol": "PORCN",
                "hgnc_symbol": "PORCN",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:48367350-48379202",
                            "ensembl_id": "ENSG00000102312"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "X:48508962-48520814",
                            "ensembl_id": "ENSG00000102312"
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                    }
                },
                "hgnc_date_symbol_changed": "2004-05-12"
            },
            "entity_type": "gene",
            "entity_name": "PORCN",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "17546030"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "Angioma serpiginosa",
                "FOCAL DERMAL HYPOPLASIA",
                "Focal dermal hypoplasia",
                "FDH"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "PP1B",
                    "PP-1B",
                    "PP1beta"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9282",
                "gene_name": "protein phosphatase 1 catalytic subunit beta",
                "omim_gene": [
                    "600590"
                ],
                "alias_name": null,
                "gene_symbol": "PPP1CB",
                "hgnc_symbol": "PPP1CB",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "2:28974506-29025806",
                            "ensembl_id": "ENSG00000213639"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "2:28751640-28802940",
                            "ensembl_id": "ENSG00000213639"
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                    }
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                "hgnc_date_symbol_changed": "1993-01-22"
            },
            "entity_type": "gene",
            "entity_name": "PPP1CB",
            "confidence_level": "3",
            "penetrance": null,
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            "evidence": [
                "Other",
                "Expert Review Green"
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            "phenotypes": [
                "NSLH2",
                "Rasopathy with developmental delay, short stature and sparse slow-growing hair",
                "NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2",
                "Noonan syndrome-like disorder with loose anagen hair 2, 617506"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
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                    "CNC1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9388",
                "gene_name": "protein kinase cAMP-dependent type I regulatory subunit alpha",
                "omim_gene": [
                    "188830"
                ],
                "alias_name": [
                    "Carney complex type 1"
                ],
                "gene_symbol": "PRKAR1A",
                "hgnc_symbol": "PRKAR1A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:66507921-66547460",
                            "ensembl_id": "ENSG00000108946"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:68511780-68551319",
                            "ensembl_id": "ENSG00000108946"
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                    }
                },
                "hgnc_date_symbol_changed": "1988-05-11"
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            "entity_type": "gene",
            "entity_name": "PRKAR1A",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "12213893",
                "10973256"
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            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
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                "PPNAD1",
                "CARNEY COMPLEX, TYPE 1",
                "Carney complex",
                "CNC1, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "PEN2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:30100",
                "gene_name": "presenilin enhancer gamma-secretase subunit",
                "omim_gene": [
                    "607632"
                ],
                "alias_name": null,
                "gene_symbol": "PSENEN",
                "hgnc_symbol": "PSENEN",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:36236015-36237911",
                            "ensembl_id": "ENSG00000205155"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "19:35745114-35747519",
                            "ensembl_id": "ENSG00000205155"
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                    }
                },
                "hgnc_date_symbol_changed": "2005-02-08"
            },
            "entity_type": "gene",
            "entity_name": "PSENEN",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "20929727"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
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            "phenotypes": [
                "ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE",
                "ACNINV2",
                "Dowling-Degos disease"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "MMAC1",
                    "TEP1",
                    "PTEN1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9588",
                "gene_name": "phosphatase and tensin homolog",
                "omim_gene": [
                    "601728"
                ],
                "alias_name": [
                    "mutated in multiple advanced cancers 1"
                ],
                "gene_symbol": "PTEN",
                "hgnc_symbol": "PTEN",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:89622870-89731687",
                            "ensembl_id": "ENSG00000171862"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:87863113-87971930",
                            "ensembl_id": "ENSG00000171862"
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                    }
                },
                "hgnc_date_symbol_changed": "1997-04-21"
            },
            "entity_type": "gene",
            "entity_name": "PTEN",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "9140396"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "Bannayan-Riley-Ruvalcaba syndrome",
                "COWDEN SYNDROME 1",
                "Melanoma",
                "Cowden syndrome",
                "CWS1",
                "Epidermal naevi"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
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                    "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"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "12:112418351-112509913",
                            "ensembl_id": "ENSG00000179295"
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                    }
                },
                "hgnc_date_symbol_changed": "1993-03-03"
            },
            "entity_type": "gene",
            "entity_name": "PTPN11",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "11704759",
                "15389709"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "Noonan syndrome with lentigines (LEOPARD)",
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                "LPRD1, NOONAN SYNDROME 1",
                "Noonan syndrome",
                "NS1"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "RAB27",
                    "RAM",
                    "GS2",
                    "HsT18676"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9766",
                "gene_name": "RAB27A, member RAS oncogene family",
                "omim_gene": [
                    "603868"
                ],
                "alias_name": null,
                "gene_symbol": "RAB27A",
                "hgnc_symbol": "RAB27A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:55495164-55611311",
                            "ensembl_id": "ENSG00000069974"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "15:55202966-55319113",
                            "ensembl_id": "ENSG00000069974"
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                    }
                },
                "hgnc_date_symbol_changed": "1996-11-15"
            },
            "entity_type": "gene",
            "entity_name": "RAB27A",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "10835631"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
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                "GS2",
                "GRISCELLI SYNDROME, TYPE 2",
                "Griscelli syndrome"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "Raf-1",
                    "c-Raf",
                    "CRAF"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9829",
                "gene_name": "Raf-1 proto-oncogene, serine/threonine kinase",
                "omim_gene": [
                    "164760"
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                "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"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "3:12583601-12664226",
                            "ensembl_id": "ENSG00000132155"
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                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
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            "entity_type": "gene",
            "entity_name": "RAF1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "17603483"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
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                "NS5",
                "Noonan syndrome with lentigines (LEOPARD)",
                "LEOPARD SYNDROME 2",
                "Noonan syndrome",
                "LPRD2, NOONAN SYNDROME 5"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "RecQ4"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9949",
                "gene_name": "RecQ like helicase 4",
                "omim_gene": [
                    "603780"
                ],
                "alias_name": null,
                "gene_symbol": "RECQL4",
                "hgnc_symbol": "RECQL4",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "8:145736667-145743229",
                            "ensembl_id": "ENSG00000160957"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "8:144511288-144517845",
                            "ensembl_id": "ENSG00000160957"
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                    }
                },
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            },
            "entity_type": "gene",
            "entity_name": "RECQL4",
            "confidence_level": "3",
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                "12952869",
                "10319867"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "Rothmund-Thompson syndrome",
                "RTS2",
                "RAPADILINO SYNDROME, ROTHMUND-THOMSON SYNDROME, TYPE 2"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "RIBB",
                    "ROC1",
                    "MGC125864",
                    "MGC125865"
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                "hgnc_id": "HGNC:10023",
                "gene_name": "Ras like without CAAX 1",
                "omim_gene": [
                    "609591"
                ],
                "alias_name": [
                    "Ric-like, expressed in many tissues",
                    "GTP-binding protein Roc1"
                ],
                "gene_symbol": "RIT1",
                "hgnc_symbol": "RIT1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:155867599-155881195",
                            "ensembl_id": "ENSG00000143622"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:155897808-155911404",
                            "ensembl_id": "ENSG00000143622"
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                    }
                },
                "hgnc_date_symbol_changed": "2002-09-13"
            },
            "entity_type": "gene",
            "entity_name": "RIT1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "23791108"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "NOONAN SYNDROME 8",
                "NS8",
                "Noonan syndrome 8, 615355"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "KIAA2004",
                    "FLJ20073"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1348",
                "gene_name": "sterile alpha motif domain containing 9",
                "omim_gene": [
                    "610456"
                ],
                "alias_name": null,
                "gene_symbol": "SAMD9",
                "hgnc_symbol": "SAMD9",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:92728829-92747336",
                            "ensembl_id": "ENSG00000205413"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "7:93099513-93118023",
                            "ensembl_id": "ENSG00000205413"
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                    }
                },
                "hgnc_date_symbol_changed": "2004-07-16"
            },
            "entity_type": "gene",
            "entity_name": "SAMD9",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "27182967",
                "16960814"
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            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "Familial tumoural calcinosis",
                "MIRAGE",
                "NFTC, MIRAGE SYNDROME",
                "TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "KIAA0790",
                    "dJ323M4.1",
                    "SH3D6A"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:19182",
                "gene_name": "SAM and SH3 domain containing 1",
                "omim_gene": [
                    "607955"
                ],
                "alias_name": null,
                "gene_symbol": "SASH1",
                "hgnc_symbol": "SASH1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:148593440-148873186",
                            "ensembl_id": "ENSG00000111961"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:148272304-148552050",
                            "ensembl_id": "ENSG00000111961"
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                    }
                },
                "hgnc_date_symbol_changed": "2003-11-27"
            },
            "entity_type": "gene",
            "entity_name": "SASH1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "27659786"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "Pigmentation defects, palmoplantar keratoderma, spinocellular carcinoma (homo)",
                "DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 1",
                "DUH1",
                "Dyschromatosis (het)"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "KIAA0862",
                    "SOC2",
                    "SUR-8",
                    "SOC-2",
                    "SUR8"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:15454",
                "gene_name": "SHOC2, leucine rich repeat scaffold protein",
                "omim_gene": [
                    "602775"
                ],
                "alias_name": null,
                "gene_symbol": "SHOC2",
                "hgnc_symbol": "SHOC2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:112679301-112773425",
                            "ensembl_id": "ENSG00000108061"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:110919547-111013667",
                            "ensembl_id": "ENSG00000108061"
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                    }
                },
                "hgnc_date_symbol_changed": "2001-03-30"
            },
            "entity_type": "gene",
            "entity_name": "SHOC2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "19684605"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "NSLH1",
                "Noonan-like syndrome with loose anagen hair",
                "NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "JSX",
                    "OCA6"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:20611",
                "gene_name": "solute carrier family 24 member 5",
                "omim_gene": [
                    "609802"
                ],
                "alias_name": [
                    "oculocutaneous albinism 6 (autosomal recessive)"
                ],
                "gene_symbol": "SLC24A5",
                "hgnc_symbol": "SLC24A5",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:48413169-48434869",
                            "ensembl_id": "ENSG00000188467"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "15:48120972-48142672",
                            "ensembl_id": "ENSG00000188467"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-03-12"
            },
            "entity_type": "gene",
            "entity_name": "SLC24A5",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "23364476"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "OCA6",
                "Oculocutaneous albinism",
                "Predisposition to melanoma",
                "ALBINISM, OCULOCUTANEOUS, TYPE VI"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "ENT3",
                    "FLJ11160"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:23096",
                "gene_name": "solute carrier family 29 member 3",
                "omim_gene": [
                    "612373"
                ],
                "alias_name": null,
                "gene_symbol": "SLC29A3",
                "hgnc_symbol": "SLC29A3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:73079015-73123142",
                            "ensembl_id": "ENSG00000198246"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "10:71319258-71363385",
                            "ensembl_id": "ENSG00000198246"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-10-08"
            },
            "entity_type": "gene",
            "entity_name": "SLC29A3",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "18940313"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "Histiocytosis-lymphadenopathy plus syndrome/H disease",
                "HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "AIM-1",
                    "OCA4"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:16472",
                "gene_name": "solute carrier family 45 member 2",
                "omim_gene": [
                    "606202"
                ],
                "alias_name": null,
                "gene_symbol": "SLC45A2",
                "hgnc_symbol": "SLC45A2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:33944721-33984835",
                            "ensembl_id": "ENSG00000164175"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:33944616-33984730",
                            "ensembl_id": "ENSG00000164175"
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                    }
                },
                "hgnc_date_symbol_changed": "2005-10-06"
            },
            "entity_type": "gene",
            "entity_name": "SLC45A2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "14722913"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "OCA4",
                "Oculocutaneous albinism",
                "Predisposition to melanoma",
                "ALBINISM, OCULOCUTANEOUS, TYPE IV"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "KIAA1784",
                    "KIAA1987",
                    "FANCP"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:23845",
                "gene_name": "SLX4 structure-specific endonuclease subunit",
                "omim_gene": [
                    "613278"
                ],
                "alias_name": [
                    "Fanconi anemia, complementation group P"
                ],
                "gene_symbol": "SLX4",
                "hgnc_symbol": "SLX4",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:3631182-3661599",
                            "ensembl_id": "ENSG00000188827"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "16:3581181-3611598",
                            "ensembl_id": "ENSG00000188827"
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                    }
                },
                "hgnc_date_symbol_changed": "2010-09-13"
            },
            "entity_type": "gene",
            "entity_name": "SLX4",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "21240277"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "Fanconi Anaemia",
                "FANCP",
                "FANCONI ANEMIA, COMPLEMENTATION GROUP P"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "HGF",
                    "GF1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11187",
                "gene_name": "SOS Ras/Rac guanine nucleotide exchange factor 1",
                "omim_gene": [
                    "182530"
                ],
                "alias_name": null,
                "gene_symbol": "SOS1",
                "hgnc_symbol": "SOS1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:39208537-39351486",
                            "ensembl_id": "ENSG00000115904"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:38981396-39124345",
                            "ensembl_id": "ENSG00000115904"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-10-27"
            },
            "entity_type": "gene",
            "entity_name": "SOS1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "17143285"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "NOONAN SYNDROME 4",
                "NS4",
                "Noonan syndrome"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11188",
                "gene_name": "SOS Ras/Rho guanine nucleotide exchange factor 2",
                "omim_gene": [
                    "601247"
                ],
                "alias_name": null,
                "gene_symbol": "SOS2",
                "hgnc_symbol": "SOS2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:50583847-50698276",
                            "ensembl_id": "ENSG00000100485"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "14:50117120-50231558",
                            "ensembl_id": "ENSG00000100485"
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                    }
                },
                "hgnc_date_symbol_changed": "1993-10-27"
            },
            "entity_type": "gene",
            "entity_name": "SOS2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "25795793"
            ],
            "evidence": [
                "Expert Review",
                "Expert Review Green"
            ],
            "phenotypes": [
                "NS9",
                "NOONAN SYNDROME 9",
                "Noonan syndrome 9 616559"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "DOM",
                    "WS4",
                    "WS2E"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11190",
                "gene_name": "SRY-box 10",
                "omim_gene": [
                    "602229"
                ],
                "alias_name": [
                    "dominant megacolon, mouse, human homolog of"
                ],
                "gene_symbol": "SOX10",
                "hgnc_symbol": "SOX10",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "22:38366693-38383429",
                            "ensembl_id": "ENSG00000100146"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "22:37970686-37987422",
                            "ensembl_id": "ENSG00000100146"
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                    }
                },
                "hgnc_date_symbol_changed": "1998-01-22"
            },
            "entity_type": "gene",
            "entity_name": "SOX10",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "9462749",
                "21965087",
                "10762540"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "PCWH, WAARDENBURG SYNDROME, TYPE 4C",
                "Waardenburg syndrome",
                "PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE",
                "WS4C, WAARDENBURG SYNDROME, TYPE 2E",
                "WS2E"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11194",
                "gene_name": "SRY-box 18",
                "omim_gene": [
                    "601618"
                ],
                "alias_name": null,
                "gene_symbol": "SOX18",
                "hgnc_symbol": "SOX18",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "20:62679076-62680994",
                            "ensembl_id": "ENSG00000203883"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "20:64047582-64049641",
                            "ensembl_id": "ENSG00000203883"
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                    }
                },
                "hgnc_date_symbol_changed": "2000-07-31"
            },
            "entity_type": "gene",
            "entity_name": "SOX18",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "12740761"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME",
                "Hypotrichosis-lymphedema-telangiectasia syndrome",
                "HLTS, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME",
                "HLTRS"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ33903",
                    "PPP1R147"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:20249",
                "gene_name": "sprouty related EVH1 domain containing 1",
                "omim_gene": [
                    "609291"
                ],
                "alias_name": [
                    "protein phosphatase 1, regulatory subunit 147"
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                "gene_symbol": "SPRED1",
                "hgnc_symbol": "SPRED1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:38544527-38649450",
                            "ensembl_id": "ENSG00000166068"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "15:38252326-38357249",
                            "ensembl_id": "ENSG00000166068"
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                    }
                },
                "hgnc_date_symbol_changed": "2003-01-24"
            },
            "entity_type": "gene",
            "entity_name": "SPRED1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "17704776"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "LEGIUS SYNDROME",
                "LGSS",
                "Legius syndrome"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "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",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:1189406-1228428",
                            "ensembl_id": "ENSG00000118046"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:1177558-1228435",
                            "ensembl_id": "ENSG00000118046"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-01-21"
            },
            "entity_type": "gene",
            "entity_name": "STK11",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "9425897"
            ],
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                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
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                "Peutz-Jeghers syndrome",
                "PEUTZ-JEGHERS SYNDROME"
            ],
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            "tags": [],
            "transcript": null
        },
        {
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                    "hTR",
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                    "SCARNA19"
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                            "location": "3:169482308-169482848",
                            "ensembl_id": "ENSG00000270141"
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                    },
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                            "ensembl_id": "ENSG00000270141"
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                    }
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            },
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            ],
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                "NHS GMS",
                "Expert Review Green"
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                "Dyskeratosis congenita",
                "DKCA1"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
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        },
        {
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                    "TP2",
                    "TCS1",
                    "hEST2",
                    "EST2"
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                "omim_gene": [
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                            "location": "5:1253262-1295184",
                            "ensembl_id": "ENSG00000164362"
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                    },
                    "GRch38": {
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                            "location": "5:1253147-1295069",
                            "ensembl_id": "ENSG00000164362"
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            },
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                "18460650"
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                "NHS GMS",
                "Expert Review Green"
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                "Dyskeratosis congenita",
                "DKCB4, INCLUDED"
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            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
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            "transcript": null
        },
        {
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                ],
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                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "TINF2",
                "hgnc_symbol": "TINF2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:24708849-24711880",
                            "ensembl_id": "ENSG00000092330"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "14:24239643-24242674",
                            "ensembl_id": "ENSG00000092330"
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                    }
                },
                "hgnc_date_symbol_changed": "1999-11-19"
            },
            "entity_type": "gene",
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                "18252230"
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                "NHS GMS",
                "Expert Review Green"
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                "Revesz syndrome",
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                "DKCA3, REVESZ SYNDROME"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
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                    "EVIN1"
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                "omim_gene": [
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                ],
                "alias_name": null,
                "gene_symbol": "TMC6",
                "hgnc_symbol": "TMC6",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:76106539-76128488",
                            "ensembl_id": "ENSG00000141524"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "17:78110458-78132407",
                            "ensembl_id": "ENSG00000141524"
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                    }
                },
                "hgnc_date_symbol_changed": "2005-11-10"
            },
            "entity_type": "gene",
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            "confidence_level": "3",
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            "mode_of_pathogenicity": "",
            "publications": [
                "12426567"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "Epidermodysplasia verruciformis, 226400",
                "EV1",
                "EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
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                ],
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                "omim_gene": [
                    "605829"
                ],
                "alias_name": null,
                "gene_symbol": "TMC8",
                "hgnc_symbol": "TMC8",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:76126851-76139049",
                            "ensembl_id": "ENSG00000167895"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:78130770-78142968",
                            "ensembl_id": "ENSG00000167895"
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                    }
                },
                "hgnc_date_symbol_changed": "2005-11-10"
            },
            "entity_type": "gene",
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            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "12426567"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2",
                "Epidermodysplasia verruciformis 2, 618231",
                "EV2"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
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                    "LAM",
                    "hamartin"
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                "hgnc_id": "HGNC:12362",
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                "omim_gene": [
                    "605284"
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                    "hamartin"
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                "hgnc_symbol": "TSC1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:135766735-135820020",
                            "ensembl_id": "ENSG00000165699"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:132891348-132944633",
                            "ensembl_id": "ENSG00000165699"
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                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "TSC1",
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            "mode_of_pathogenicity": "",
            "publications": [
                "10227394"
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            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
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                "TSC1",
                "TUBEROUS SCLEROSIS 1"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
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                    "LAM",
                    "PPP1R160"
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                "omim_gene": [
                    "191092"
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                "alias_name": [
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                "hgnc_symbol": "TSC2",
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                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:2097466-2138716",
                            "ensembl_id": "ENSG00000103197"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "16:2047465-2088720",
                            "ensembl_id": "ENSG00000103197"
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                    }
                },
                "hgnc_date_symbol_changed": "1989-05-25"
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            "entity_type": "gene",
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                "12111193"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
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                "TUBEROUS SCLEROSIS 2",
                "TSC2"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
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                    "OCA1A",
                    "OCA1"
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                "omim_gene": [
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                "hgnc_symbol": "TYR",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "11:88910620-89028927",
                            "ensembl_id": "ENSG00000077498"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "11:89177452-89295759",
                            "ensembl_id": "ENSG00000077498"
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                "hgnc_date_symbol_changed": "1988-08-16"
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            "mode_of_pathogenicity": "",
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                "NHS GMS",
                "Expert Review Green"
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                "OCA1B",
                "OCA1A, ALBINISM, OCULOCUTANEOUS, TYPE IB"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
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        },
        {
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                    "TRP",
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                "ensembl_genes": {
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                            "location": "9:12685439-12710290",
                            "ensembl_id": "ENSG00000107165"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "9:12685439-12710290",
                            "ensembl_id": "ENSG00000107165"
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            "entity_type": "gene",
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                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
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                "OCA3",
                "ALBINISM, OCULOCUTANEOUS, TYPE III"
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        },
        {
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                    "FANCT"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25009",
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                "omim_gene": [
                    "610538"
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                "hgnc_symbol": "UBE2T",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "1:202300785-202311108",
                            "ensembl_id": "ENSG00000077152"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "1:202331657-202341980",
                            "ensembl_id": "ENSG00000077152"
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                    }
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                "hgnc_date_symbol_changed": "2005-03-21"
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            "evidence": [
                "Expert Review Green",
                "Expert Review"
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                "FANCT",
                "FANCONI ANEMIA, COMPLEMENTATION GROUP T"
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        },
        {
            "gene_data": {
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                    "HVSL1",
                    "Mpn1"
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                "biotype": "protein_coding",
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                "omim_gene": [
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                "alias_name": [
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                    "U six biogenesis 1",
                    "mutated in poikiloderma with neutropenia protein 1"
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                "hgnc_symbol": "USB1",
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                            "location": "16:58033450-58055522",
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                "hgnc_date_symbol_changed": "2012-08-21"
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                "20004881"
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                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
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                "PN",
                "POIKILODERMA WITH NEUTROPENIA"
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            "tags": [],
            "transcript": null
        },
        {
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                "omim_gene": [
                    "612661"
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                "alias_name": [
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                "hgnc_symbol": "WRAP53",
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                "ensembl_genes": {
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                            "location": "17:7589389-7606820",
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                "hgnc_date_symbol_changed": "2009-02-16"
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                "NHS GMS",
                "Expert Review Green"
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        },
        {
            "gene_data": {
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                    "P70R",
                    "EST352188"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:68",
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                "omim_gene": [
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                "alias_name": null,
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                "hgnc_symbol": "ABCD4",
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                "ensembl_genes": {
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                            "location": "14:74752126-74769759",
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                },
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        },
        {
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                    "GLM-R",
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                "hgnc_id": "HGNC:18969",
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                "omim_gene": [
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                "hgnc_symbol": "IL31RA",
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                            "location": "5:55147207-55218678",
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                "hgnc_date_symbol_changed": "2003-11-06"
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            "entity_type": "gene",
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                "Expert Review Amber"
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        },
        {
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                "alias_name": [
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                },
                "hgnc_date_symbol_changed": "1998-10-01"
            },
            "entity_type": "gene",
            "entity_name": "OFD1",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "London North GLH",
                "Expert Review Red",
                "NHS GMS"
            ],
            "phenotypes": [
                "Terminal osseous dysplasia with pigmentary defects"
            ],
            "mode_of_inheritance": "",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "GAP1M"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9872",
                "gene_name": "RAS p21 protein activator 2",
                "omim_gene": [
                    "601589"
                ],
                "alias_name": null,
                "gene_symbol": "RASA2",
                "hgnc_symbol": "RASA2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:141205889-141334184",
                            "ensembl_id": "ENSG00000155903"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:141487047-141615342",
                            "ensembl_id": "ENSG00000155903"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1996-11-15"
            },
            "entity_type": "gene",
            "entity_name": "RASA2",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "25049390"
            ],
            "evidence": [
                "Other"
            ],
            "phenotypes": [
                "Noonan syndrome?"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "NR1I1",
                    "PPP1R163"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12679",
                "gene_name": "vitamin D receptor",
                "omim_gene": [
                    "601769"
                ],
                "alias_name": [
                    "protein phosphatase 1, regulatory subunit 163",
                    "1,25- dihydroxyvitamin D3 receptor"
                ],
                "gene_symbol": "VDR",
                "hgnc_symbol": "VDR",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:48235320-48336831",
                            "ensembl_id": "ENSG00000111424"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:47841537-47943048",
                            "ensembl_id": "ENSG00000111424"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1989-06-30"
            },
            "entity_type": "gene",
            "entity_name": "VDR",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "London North GLH",
                "Expert Review Red",
                "NHS GMS"
            ],
            "phenotypes": [
                "Susceptibility to skin cancer"
            ],
            "mode_of_inheritance": "",
            "tags": [],
            "transcript": null
        }
    ],
    "strs": [],
    "regions": [
        {
            "gene_data": null,
            "entity_type": "region",
            "entity_name": "ISCA-37431-Loss",
            "verbose_name": "17q11.2 recurrent region (includes NF1) Loss",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "haploinsufficiency_score": "3",
            "triplosensitivity_score": null,
            "required_overlap_percentage": 80,
            "type_of_variants": "cnv_loss",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Expert Review",
                "ClinGen"
            ],
            "phenotypes": [
                "dysmorphic features, cardiac anomalies and mental retardation",
                "613675",
                "variable facial dysmorphism, cafe-au-lait spots, neurofibromas and Lisch nodules in the iris, mental retardation, developmental delay, an excessive number of early-onset neurofibromas and an increased risk for malignant peripheral nerve sheath tumors",
                "NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME",
                "NF1 MICRODELETION SYNDROME",
                "Chromosome 17q11.2 deletion syndrome, 1.4Mb"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "chromosome": "17",
            "grch37_coordinates": null,
            "grch38_coordinates": [
                30835804,
                31891648
            ],
            "tags": []
        }
    ]
}