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": "3.11",
    "version_created": "2024-03-26T14:51:20.333416Z",
    "relevant_disorders": [
        "R236"
    ],
    "stats": {
        "number_of_genes": 131,
        "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": "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",
                "34418169",
                "35076920",
                "35832578"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "Dyschromatosis symmetrica hereditaria, OMIM:127400",
                "Aicardi-Goutieres syndrome 6, OMIM:615010"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "MCPR",
                    "TSG24",
                    "APC1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:19988",
                "gene_name": "anaphase promoting complex subunit 1",
                "omim_gene": [
                    "608473"
                ],
                "alias_name": null,
                "gene_symbol": "ANAPC1",
                "hgnc_symbol": "ANAPC1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:112523848-112642267",
                            "ensembl_id": "ENSG00000153107"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:111766271-111884690",
                            "ensembl_id": "ENSG00000153107"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-01-13"
            },
            "entity_type": "gene",
            "entity_name": "ANAPC1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "31303264"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": []
        },
        {
            "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": [
                "Tumor predisposition syndrome 1, OMIM:614327",
                "{Uveal melanoma, susceptibility to, 2}, OMIM:606661"
            ],
            "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": [
                "Fanconi anemia, complementation group S, OMIM:617883"
            ],
            "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": [
                "Fanconi anemia, complementation group D1, OMIM:605724"
            ],
            "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": [
                "Fanconi anemia, complementation group J, OMIM:609054"
            ],
            "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"
                        }
                    }
                },
                "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, 2}, OMIM:155601",
                "{Melanoma and neural system tumor syndrome}, OMIM:155755",
                "{Melanoma-pancreatic cancer syndrome}, OMIM:606719"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
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                    "KIP"
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                    }
                },
                "hgnc_date_symbol_changed": "2002-05-08"
            },
            "entity_type": "gene",
            "entity_name": "CIB1",
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            "publications": [
                "30068544"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3",
                "Epidermodysplasia verruciformis 3, 618267",
                "EV3"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2291",
                "gene_name": "cytochrome c oxidase subunit 7B",
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                    "300885"
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                "hgnc_symbol": "COX7B",
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                            "ensembl_id": "ENSG00000131174"
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                    }
                },
                "hgnc_date_symbol_changed": "1993-12-13"
            },
            "entity_type": "gene",
            "entity_name": "COX7B",
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            "penetrance": "unknown",
            "mode_of_pathogenicity": null,
            "publications": [
                "33670341"
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            "evidence": [
                "Expert Review Green",
                "Other"
            ],
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                "Linear skin defects with multiple congenital anomalies 2, OMIM:300887"
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            "tags": [],
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        },
        {
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                    "HLP2",
                    "DDX14"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2745",
                "gene_name": "DEAD-box helicase 3, X-linked",
                "omim_gene": [
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                ],
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                    }
                },
                "hgnc_date_symbol_changed": "2003-06-20"
            },
            "entity_type": "gene",
            "entity_name": "DDX3X",
            "confidence_level": "3",
            "penetrance": "unknown",
            "mode_of_pathogenicity": null,
            "publications": [
                "30349862"
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            "evidence": [
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type, OMIM:300958"
            ],
            "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
        },
        {
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                    "dyskerin",
                    "NAP57",
                    "NOLA4",
                    "Cbf5"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2890",
                "gene_name": "dyskerin pseudouridine synthase 1",
                "omim_gene": [
                    "300126"
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                "alias_name": [
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                "hgnc_symbol": "DKC1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                    },
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                            "location": "X:154762742-154777689",
                            "ensembl_id": "ENSG00000130826"
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                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "DKC1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "9590285"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "DKCX",
                "DYSKERATOSIS CONGENITA, X-LINKED",
                "Dyskeratosis congenita"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
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                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3178",
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                "omim_gene": [
                    "131242"
                ],
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                "gene_symbol": "EDN3",
                "hgnc_symbol": "EDN3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "20:57875482-57901047",
                            "ensembl_id": "ENSG00000124205"
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                    },
                    "GRch38": {
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                            "location": "20:59300427-59325992",
                            "ensembl_id": "ENSG00000124205"
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                    }
                },
                "hgnc_date_symbol_changed": "1989-09-06"
            },
            "entity_type": "gene",
            "entity_name": "EDN3",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "8630503",
                "8630502"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "WAARDENBURG SYNDROME, TYPE 4B",
                "WS4B",
                "Waardenburg syndrome"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "ETB"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3180",
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                "omim_gene": [
                    "131244"
                ],
                "alias_name": null,
                "gene_symbol": "EDNRB",
                "hgnc_symbol": "EDNRB",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "13:78469616-78493903",
                            "ensembl_id": "ENSG00000136160"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "13:77895481-77919768",
                            "ensembl_id": "ENSG00000136160"
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                    }
                },
                "hgnc_date_symbol_changed": "1992-02-13"
            },
            "entity_type": "gene",
            "entity_name": "EDNRB",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "8634719",
                "10528251"
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            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
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                "WS4A",
                "Waardenburg syndrome",
                "WAARDENBURG SYNDROME, TYPE 4A"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
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                    "PCA1"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3356",
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                "omim_gene": [
                    "173335"
                ],
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                "gene_symbol": "ENPP1",
                "hgnc_symbol": "ENPP1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                            "location": "6:132129156-132216295",
                            "ensembl_id": "ENSG00000197594"
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                    },
                    "GRch38": {
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                            "location": "6:131808016-131895155",
                            "ensembl_id": "ENSG00000197594"
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                "hgnc_date_symbol_changed": "1992-12-08"
            },
            "entity_type": "gene",
            "entity_name": "ENPP1",
            "confidence_level": "3",
            "penetrance": null,
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            "publications": [
                "24075184"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
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                "COLED",
                "COLE DISEASE"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
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                    "FANCQ"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3436",
                "gene_name": "ERCC excision repair 4, endonuclease catalytic subunit",
                "omim_gene": [
                    "133520"
                ],
                "alias_name": [
                    "xeroderma pigmentosum, complementation group F"
                ],
                "gene_symbol": "ERCC4",
                "hgnc_symbol": "ERCC4",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "16:14014014-14046202",
                            "ensembl_id": "ENSG00000175595"
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                    },
                    "GRch38": {
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                            "ensembl_id": "ENSG00000175595"
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                },
                "hgnc_date_symbol_changed": "2001-06-22"
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            "entity_type": "gene",
            "entity_name": "ERCC4",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
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            "evidence": [
                "Expert Review Green",
                "Expert Review"
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                "XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F",
                "XPF"
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        },
        {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:24200",
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                "omim_gene": [
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                "alias_name": null,
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                "hgnc_symbol": "FAM111B",
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                "ensembl_genes": {
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            "entity_type": "gene",
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                "NHS GMS",
                "Expert Review Green"
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                "Hereditary fibrosing poikiloderma",
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        },
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                    "FAH"
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                "biotype": "protein_coding",
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                "ensembl_genes": {
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                    },
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                            "ensembl_id": "ENSG00000187741"
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            "entity_type": "gene",
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            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
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            "evidence": [
                "Expert Review Green",
                "Expert Review"
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                "FANCA",
                "FANCONI ANEMIA, COMPLEMENTATION GROUP A"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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        },
        {
            "gene_data": {
                "alias": [
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                    "FLJ34064",
                    "FAAP95"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3583",
                "gene_name": "Fanconi anemia complementation group B",
                "omim_gene": [
                    "300515"
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                "alias_name": null,
                "gene_symbol": "FANCB",
                "hgnc_symbol": "FANCB",
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                "ensembl_genes": {
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                    },
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                "hgnc_date_symbol_changed": "1998-08-26"
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            "entity_type": "gene",
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                "Expert Review Green",
                "Expert Review"
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                "FANCB"
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        },
        {
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                    "FA3"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3584",
                "gene_name": "Fanconi anemia complementation group C",
                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "FANCC",
                "hgnc_symbol": "FANCC",
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                "ensembl_genes": {
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                },
                "hgnc_date_symbol_changed": "1992-11-25"
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            "entity_type": "gene",
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                "Expert Review Green",
                "Expert Review"
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                "FANCC"
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        },
        {
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                "FANCONI ANEMIA, COMPLEMENTATION GROUP D2"
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        },
        {
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                "hgnc_symbol": "FANCE",
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                "Expert Review"
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                "FANCONI ANEMIA, COMPLEMENTATION GROUP E"
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        },
        {
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                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3587",
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                "omim_gene": [
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                "alias_name": null,
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                "hgnc_symbol": "FANCF",
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                "ensembl_genes": {
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                            "location": "11:22644079-22647387",
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                    },
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                },
                "hgnc_date_symbol_changed": "1998-08-26"
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            "entity_type": "gene",
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                "Expert Review Green",
                "Expert Review"
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                "FANCF"
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        },
        {
            "gene_data": {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3588",
                "gene_name": "Fanconi anemia complementation group G",
                "omim_gene": [
                    "602956"
                ],
                "alias_name": [
                    "DNA repair protein XRCC9",
                    "X-ray repair, complementing defective, in Chinese hamster, 9",
                    "X-ray repair complementing defective repair in Chinese hamster cells 9"
                ],
                "gene_symbol": "FANCG",
                "hgnc_symbol": "FANCG",
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                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:35073832-35080013",
                            "ensembl_id": "ENSG00000221829"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:35073835-35080016",
                            "ensembl_id": "ENSG00000221829"
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                    }
                },
                "hgnc_date_symbol_changed": "1998-08-26"
            },
            "entity_type": "gene",
            "entity_name": "FANCG",
            "confidence_level": "3",
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            "mode_of_pathogenicity": "",
            "publications": [
                "9806548"
            ],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
            ],
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                "FANCG",
                "FANCONI ANEMIA, COMPLEMENTATION GROUP G"
            ],
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        },
        {
            "gene_data": {
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                    "FLJ10719"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25568",
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                "omim_gene": [
                    "611360"
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                "alias_name": null,
                "gene_symbol": "FANCI",
                "hgnc_symbol": "FANCI",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "15:89787180-89860492",
                            "ensembl_id": "ENSG00000140525"
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                    },
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                            "location": "15:89243949-89317261",
                            "ensembl_id": "ENSG00000140525"
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                    }
                },
                "hgnc_date_symbol_changed": "2007-05-03"
            },
            "entity_type": "gene",
            "entity_name": "FANCI",
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            "mode_of_pathogenicity": "",
            "publications": [
                "17452773"
            ],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
            ],
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                "FANCI",
                "FANCONI ANEMIA, COMPLEMENTATION GROUP I"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ10335",
                    "FAAP43",
                    "Pog"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:20748",
                "gene_name": "Fanconi anemia complementation group L",
                "omim_gene": [
                    "608111"
                ],
                "alias_name": null,
                "gene_symbol": "FANCL",
                "hgnc_symbol": "FANCL",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "2:58386378-58468507",
                            "ensembl_id": "ENSG00000115392"
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                    },
                    "GRch38": {
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                            "location": "2:58159243-58241372",
                            "ensembl_id": "ENSG00000115392"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-10-15"
            },
            "entity_type": "gene",
            "entity_name": "FANCL",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "25754594",
                "12973351",
                "19405097"
            ],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
            ],
            "phenotypes": [
                "FANCONI ANEMIA, COMPLEMENTATION GROUP L",
                "FANCL"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3680",
                "gene_name": "fibroblast growth factor 23",
                "omim_gene": [
                    "605380"
                ],
                "alias_name": null,
                "gene_symbol": "FGF23",
                "hgnc_symbol": "FGF23",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                            "location": "12:4477393-4488894",
                            "ensembl_id": "ENSG00000118972"
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                    },
                    "GRch38": {
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                            "location": "12:4368227-4379728",
                            "ensembl_id": "ENSG00000118972"
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                    }
                },
                "hgnc_date_symbol_changed": "2000-05-16"
            },
            "entity_type": "gene",
            "entity_name": "FGF23",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "11062477",
                "15590700"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "Familial tumoural calcinosis",
                "ADHR, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2",
                "HFTC2",
                "HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "GalNAc-T3",
                    "HHS",
                    "HFTC"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4125",
                "gene_name": "polypeptide N-acetylgalactosaminyltransferase 3",
                "omim_gene": [
                    "601756"
                ],
                "alias_name": [
                    "polypeptide GalNAc transferase 3"
                ],
                "gene_symbol": "GALNT3",
                "hgnc_symbol": "GALNT3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:166604101-166651192",
                            "ensembl_id": "ENSG00000115339"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:165747591-165794682",
                            "ensembl_id": "ENSG00000115339"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1996-10-26"
            },
            "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
        },
        {
            "gene_data": {
                "alias": [
                    "CX43",
                    "ODD",
                    "ODOD",
                    "SDTY3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4274",
                "gene_name": "gap junction protein alpha 1",
                "omim_gene": [
                    "121014"
                ],
                "alias_name": [
                    "oculodentodigital dysplasia (syndactyly type III)",
                    "connexin 43"
                ],
                "gene_symbol": "GJA1",
                "hgnc_symbol": "GJA1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "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"
            },
            "entity_type": "gene",
            "entity_name": "GJA1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "25398053"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "Erythrokeratodermia variabilis et progressiva 3, OMIM:617525",
                "Palmoplantar keratoderma with congenital alopecia, OMIM:104100"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "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"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:34781189-34786369",
                            "ensembl_id": "ENSG00000188910"
                        }
                    }
                },
                "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"
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                    },
                    "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 et progressiva 2, OMIM:617524"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
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                    "NMB",
                    "HGFIN"
                ],
                "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"
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                    },
                    "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": [
                    "CCHL"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4837",
                "gene_name": "holocytochrome c synthase",
                "omim_gene": [
                    "300056"
                ],
                "alias_name": [
                    "cytochrome c heme-lyase"
                ],
                "gene_symbol": "HCCS",
                "hgnc_symbol": "HCCS",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:11129421-11141198",
                            "ensembl_id": "ENSG00000004961"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "X:11111301-11123078",
                            "ensembl_id": "ENSG00000004961"
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                    }
                },
                "hgnc_date_symbol_changed": "1995-09-20"
            },
            "entity_type": "gene",
            "entity_name": "HCCS",
            "confidence_level": "3",
            "penetrance": "unknown",
            "mode_of_pathogenicity": null,
            "publications": [
                "33670341"
            ],
            "evidence": [
                "Expert Review Green",
                "Other"
            ],
            "phenotypes": [
                "Linear skin defects with multiple congenital anomalies 1, OMIM:309801"
            ],
            "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": [
                    "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"
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                    }
                },
                "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",
                "gene_name": "HRas proto-oncogene, GTPase",
                "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",
                "23399981"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "Mastocytosis, cutaneous, OMIM:154800",
                "Piebaldism, OMIM:172800"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "SCF",
                    "SF",
                    "Kitl",
                    "KL-1",
                    "FPH2",
                    "SLF",
                    "DFNA69"
                ],
                "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, OMIM:145250",
                "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"
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                    },
                    "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": [
                "16474404",
                "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"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:40818117-40822595",
                            "ensembl_id": "ENSG00000186395"
                        }
                    }
                },
                "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"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:41582279-41586921",
                            "ensembl_id": "ENSG00000186847"
                        }
                    }
                },
                "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"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:52514575-52520687",
                            "ensembl_id": "ENSG00000186081"
                        }
                    }
                },
                "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"
            },
            "entity_type": "gene",
            "entity_name": "LYST",
            "confidence_level": "3",
            "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
        },
        {
            "gene_data": {
                "alias": [
                    "LZTR-1",
                    "BTBD29"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6742",
                "gene_name": "leucine zipper like transcription regulator 1",
                "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"
                        }
                    }
                },
                "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": {
                "alias": [
                    "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"
                        }
                    }
                },
                "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
        },
        {
            "gene_data": {
                "alias": [
                    "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"
                        }
                    }
                },
                "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": {
                "alias": [
                    "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"
                        }
                    }
                },
                "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": {
                "alias": [
                    "HNPCC",
                    "FCC2",
                    "HNPCC2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7127",
                "gene_name": "mutL homolog 1",
                "omim_gene": [
                    "120436"
                ],
                "alias_name": null,
                "gene_symbol": "MLH1",
                "hgnc_symbol": "MLH1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:37034823-37107380",
                            "ensembl_id": "ENSG00000076242"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:36993332-37050918",
                            "ensembl_id": "ENSG00000076242"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-11-24"
            },
            "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": {
                "alias": [
                    "HNPCC",
                    "HNPCC1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7325",
                "gene_name": "mutS homolog 2",
                "omim_gene": [
                    "609309"
                ],
                "alias_name": null,
                "gene_symbol": "MSH2",
                "hgnc_symbol": "MSH2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:47630108-47789450",
                            "ensembl_id": "ENSG00000095002"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:47402969-47562311",
                            "ensembl_id": "ENSG00000095002"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-07-28"
            },
            "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": [
                    "601231"
                ],
                "alias_name": [
                    "FK506 binding protein 12-rapamycin associated protein 2",
                    "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)",
                    "rapamycin and FKBP12 target 1",
                    "mammalian target of rapamycin"
                ],
                "gene_symbol": "MTOR",
                "hgnc_symbol": "MTOR",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:11166592-11322564",
                            "ensembl_id": "ENSG00000198793"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:11106535-11262507",
                            "ensembl_id": "ENSG00000198793"
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                    }
                },
                "hgnc_date_symbol_changed": "2009-05-29"
            },
            "entity_type": "gene",
            "entity_name": "MTOR",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "27830187"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "SKS",
                "SMITH-KINGSMORE SYNDROME",
                "Hypomelanosis of Ito/Blaschko-linear hypopigmentation"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "MYO5",
                    "GS1",
                    "MYR12"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7602",
                "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"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "15:52307283-52529050",
                            "ensembl_id": "ENSG00000197535"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-09-23"
            },
            "entity_type": "gene",
            "entity_name": "MYO5A",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "9207796"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "GRISCELLI SYNDROME, TYPE 1",
                "GS1",
                "Griscelli syndrome"
            ],
            "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"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:31094927-31382116",
                            "ensembl_id": "ENSG00000196712"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "NF1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "9003501"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "NEUROFIBROMATOSIS, TYPE I",
                "NF1",
                "Neurofibromatosis type I"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "merlin",
                    "ACN",
                    "SCH",
                    "BANF"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7773",
                "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"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "22:29603556-29698598",
                            "ensembl_id": "ENSG00000186575"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-01-01"
            },
            "entity_type": "gene",
            "entity_name": "NF2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "7913580"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "NF2",
                "Neurofibromatosis type 2",
                "NEUROFIBROMATOSIS, TYPE II"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
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                    "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"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:114704469-114716894",
                            "ensembl_id": "ENSG00000213281"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "NRAS",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "19966803"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "Congenital melanocytic naevus syndrome",
                "Melanocytic naevi",
                "NOONAN SYNDROME 6",
                "Noonan syndrome",
                "NS6"
            ],
            "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"
                        }
                    },
                    "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"
            ],
            "phenotypes": [
                "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",
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                "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"
                        }
                    }
                },
                "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"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
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                    "FANCN"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:26144",
                "gene_name": "partner and localizer of BRCA2",
                "omim_gene": [
                    "610355"
                ],
                "alias_name": [
                    "Fanconi anemia, complementation group N"
                ],
                "gene_symbol": "PALB2",
                "hgnc_symbol": "PALB2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "16:23614488-23652631",
                            "ensembl_id": "ENSG00000083093"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:23603160-23641310",
                            "ensembl_id": "ENSG00000083093"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-01-15"
            },
            "entity_type": "gene",
            "entity_name": "PALB2",
            "confidence_level": "3",
            "penetrance": null,
            "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
        },
        {
            "gene_data": {
                "alias": [
                    "HUP2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8617",
                "gene_name": "paired box 3",
                "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",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "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": [
                    "KIAA1823",
                    "MGC14797",
                    "CENP-31"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:18145",
                "gene_name": "PHD finger protein 6",
                "omim_gene": [
                    "300414"
                ],
                "alias_name": [
                    "centromere protein 31"
                ],
                "gene_symbol": "PHF6",
                "hgnc_symbol": "PHF6",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:133507283-133562820",
                            "ensembl_id": "ENSG00000156531"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:134373253-134428791",
                            "ensembl_id": "ENSG00000156531"
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                    }
                },
                "hgnc_date_symbol_changed": "2002-02-28"
            },
            "entity_type": "gene",
            "entity_name": "PHF6",
            "confidence_level": "3",
            "penetrance": "unknown",
            "mode_of_pathogenicity": null,
            "publications": [
                "24092917",
                "25099957"
            ],
            "evidence": [
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "Borjeson-Forssman-Lehmann syndrome, OMIM:301900",
                "Fine and whorled Blaschko-linear hypo or hyperpigmentation"
            ],
            "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": [
                    "PI3K"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8975",
                "gene_name": "phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha",
                "omim_gene": [
                    "171834"
                ],
                "alias_name": null,
                "gene_symbol": "PIK3CA",
                "hgnc_symbol": "PIK3CA",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                        "82": {
                            "location": "3:178865902-178957881",
                            "ensembl_id": "ENSG00000121879"
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                    },
                    "GRch38": {
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                            "location": "3:179148114-179240093",
                            "ensembl_id": "ENSG00000121879"
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                "hgnc_date_symbol_changed": "1994-07-15"
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            "entity_type": "gene",
            "entity_name": "PIK3CA",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
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                "22729224"
            ],
            "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": {
                "alias": [
                    "H_DJ0042M02.9",
                    "HNPCC4",
                    "MLH4"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9122",
                "gene_name": "PMS1 homolog 2, mismatch repair system component",
                "omim_gene": [
                    "600259"
                ],
                "alias_name": null,
                "gene_symbol": "PMS2",
                "hgnc_symbol": "PMS2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:6012870-6048756",
                            "ensembl_id": "ENSG00000122512"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:5973239-6009125",
                            "ensembl_id": "ENSG00000122512"
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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": [
                "10763829"
            ],
            "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": [
                    "O-FUT",
                    "O-Fuc-T",
                    "KIAA0180",
                    "FUT12"
                ],
                "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": {
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                            "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"
            ],
            "phenotypes": [
                "DOWLING-DEGOS DISEASE 2",
                "DDD2",
                "Dowling-Degos disease"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "MDS010",
                    "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"
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                "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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                            "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": {
                        "82": {
                            "location": "2:28974506-29025806",
                            "ensembl_id": "ENSG00000213639"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "2:28751640-28802940",
                            "ensembl_id": "ENSG00000213639"
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                },
                "hgnc_date_symbol_changed": "1993-01-22"
            },
            "entity_type": "gene",
            "entity_name": "PPP1CB",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "27264673"
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            "evidence": [
                "Other",
                "Expert Review Green"
            ],
            "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": {
                "alias": [
                    "CNC1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9388",
                "gene_name": "protein kinase cAMP-dependent type I regulatory subunit alpha",
                "omim_gene": [
                    "188830"
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                "alias_name": [
                    "Carney complex type 1"
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                "gene_symbol": "PRKAR1A",
                "hgnc_symbol": "PRKAR1A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:66507921-66547460",
                            "ensembl_id": "ENSG00000108946"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "17:68511780-68551319",
                            "ensembl_id": "ENSG00000108946"
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                    }
                },
                "hgnc_date_symbol_changed": "1988-05-11"
            },
            "entity_type": "gene",
            "entity_name": "PRKAR1A",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "12213893",
                "10973256"
            ],
            "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"
            ],
            "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"
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            "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"
            ],
            "phenotypes": [
                "ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE",
                "ACNINV2",
                "Dowling-Degos disease"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
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                    "MMAC1",
                    "TEP1",
                    "PTEN1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9588",
                "gene_name": "phosphatase and tensin homolog",
                "omim_gene": [
                    "601728"
                ],
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                "hgnc_symbol": "PTEN",
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                "ensembl_genes": {
                    "GRch37": {
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                            "location": "10:89622870-89731687",
                            "ensembl_id": "ENSG00000171862"
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                    },
                    "GRch38": {
                        "90": {
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                            "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
        },
        {
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                    "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": {
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                        "82": {
                            "location": "12:112856155-112947717",
                            "ensembl_id": "ENSG00000179295"
                        }
                    },
                    "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)",
                "LEOPARD SYNDROME 1",
                "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"
                ],
                "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"
                        }
                    },
                    "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"
            ],
            "phenotypes": [
                "GS2",
                "GRISCELLI SYNDROME, TYPE 2",
                "Griscelli syndrome"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
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                    "c-Raf",
                    "CRAF"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9829",
                "gene_name": "Raf-1 proto-oncogene, serine/threonine kinase",
                "omim_gene": [
                    "164760"
                ],
                "alias_name": [
                    "C-Raf proto-oncogene, serine/threonine kinase"
                ],
                "gene_symbol": "RAF1",
                "hgnc_symbol": "RAF1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:12625100-12705725",
                            "ensembl_id": "ENSG00000132155"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "3:12583601-12664226",
                            "ensembl_id": "ENSG00000132155"
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                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "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"
            ],
            "phenotypes": [
                "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"
                ],
                "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"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "8:144511288-144517845",
                            "ensembl_id": "ENSG00000160957"
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                    }
                },
                "hgnc_date_symbol_changed": "2014-03-07"
            },
            "entity_type": "gene",
            "entity_name": "RECQL4",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "12952869",
                "10319867"
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            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "Baller-Gerold syndrome, OMIM:218600",
                "Rothmund-Thomson syndrome, type 2, OMIM:268400"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "RIBB",
                    "ROC1",
                    "MGC125864",
                    "MGC125865"
                ],
                "biotype": "protein_coding",
                "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"
            ],
            "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"
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                    },
                    "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": [
                "Dyschromatosis universalis hereditaria 1, OMIM:127500 (AD)",
                "?Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma, OMIM:618373 (AR)"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [
                "watchlist_moi"
            ],
            "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"
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                    },
                    "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"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "15:48120972-48142672",
                            "ensembl_id": "ENSG00000188467"
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                    }
                },
                "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"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "ENT3",
                    "FLJ11160"
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                "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"
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                    }
                },
                "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, OMIM:602782"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "AIM-1",
                    "OCA4"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:16472",
                "gene_name": "solute carrier family 45 member 2",
                "omim_gene": [
                    "606202"
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                "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"
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                    },
                    "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"
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            "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": {
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                            "location": "16:3581181-3611598",
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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": [
                    "HHARP",
                    "HARP"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11102",
                "gene_name": "SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1",
                "omim_gene": [
                    "606622"
                ],
                "alias_name": [
                    "HepA-related protein",
                    "ATP-driven annealing helicase"
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                "gene_symbol": "SMARCAL1",
                "hgnc_symbol": "SMARCAL1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:217277137-217347776",
                            "ensembl_id": "ENSG00000138375"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "2:216412414-216483053",
                            "ensembl_id": "ENSG00000138375"
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                    }
                },
                "hgnc_date_symbol_changed": "2000-02-18"
            },
            "entity_type": "gene",
            "entity_name": "SMARCAL1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": null,
            "publications": [
                "11799392",
                "20301550"
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            "evidence": [
                "Expert Review Green",
                "Other"
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            "phenotypes": [
                "Schimke immunoosseous dysplasia, OMIM:242900"
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            "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"
                        }
                    }
                },
                "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"
                        }
                    }
                },
                "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"
                        }
                    }
                },
                "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"
                ],
                "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"
                ],
                "gene_symbol": "SPRED1",
                "hgnc_symbol": "SPRED1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:38544527-38649450",
                            "ensembl_id": "ENSG00000166068"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "15:38252326-38357249",
                            "ensembl_id": "ENSG00000166068"
                        }
                    }
                },
                "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"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "PJS",
                "Peutz-Jeghers syndrome",
                "PEUTZ-JEGHERS SYNDROME"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "TR",
                    "hTR",
                    "TRC3",
                    "SCARNA19"
                ],
                "biotype": "lincRNA",
                "hgnc_id": "HGNC:11727",
                "gene_name": "telomerase RNA component",
                "omim_gene": [
                    "602322"
                ],
                "alias_name": [
                    "small Cajal body-specific RNA 19"
                ],
                "gene_symbol": "TERC",
                "hgnc_symbol": "TERC",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:169482308-169482848",
                            "ensembl_id": "ENSG00000270141"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:169764520-169765060",
                            "ensembl_id": "ENSG00000270141"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-07-25"
            },
            "entity_type": "gene",
            "entity_name": "TERC",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "11574891"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1",
                "Dyskeratosis congenita",
                "DKCA1"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "TRT",
                    "TP2",
                    "TCS1",
                    "hEST2",
                    "EST2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11730",
                "gene_name": "telomerase reverse transcriptase",
                "omim_gene": [
                    "187270"
                ],
                "alias_name": null,
                "gene_symbol": "TERT",
                "hgnc_symbol": "TERT",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:1253262-1295184",
                            "ensembl_id": "ENSG00000164362"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:1253147-1295069",
                            "ensembl_id": "ENSG00000164362"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-01-21"
            },
            "entity_type": "gene",
            "entity_name": "TERT",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "17785587",
                "18460650"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "Dyskeratosis congenita, autosomal dominant 2, OMIM:613989",
                "Dyskeratosis congenita, autosomal recessive 4, OMIM:613989"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "TFEA",
                    "bHLHe33"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11752",
                "gene_name": "transcription factor binding to IGHM enhancer 3",
                "omim_gene": [
                    "314310"
                ],
                "alias_name": null,
                "gene_symbol": "TFE3",
                "hgnc_symbol": "TFE3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:48886242-48901012",
                            "ensembl_id": "ENSG00000068323"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:49028726-49043486",
                            "ensembl_id": "ENSG00000068323"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1990-10-16"
            },
            "entity_type": "gene",
            "entity_name": "TFE3",
            "confidence_level": "3",
            "penetrance": "unknown",
            "mode_of_pathogenicity": null,
            "publications": [
                "32409512"
            ],
            "evidence": [
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies, OMIM:301066"
            ],
            "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": [
                    "TIN2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11824",
                "gene_name": "TERF1 interacting nuclear factor 2",
                "omim_gene": [
                    "604319"
                ],
                "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"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-11-19"
            },
            "entity_type": "gene",
            "entity_name": "TINF2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "21477109",
                "18252230"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3",
                "Revesz syndrome",
                "Dyskeratosis congenita",
                "DKCA3, REVESZ SYNDROME"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "LAK-4P",
                    "EVIN1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:18021",
                "gene_name": "transmembrane channel like 6",
                "omim_gene": [
                    "605828"
                ],
                "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"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:78110458-78132407",
                            "ensembl_id": "ENSG00000141524"
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                    }
                },
                "hgnc_date_symbol_changed": "2005-11-10"
            },
            "entity_type": "gene",
            "entity_name": "TMC6",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "12426567"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "Epidermodysplasia verruciformis, 226400",
                "EV1",
                "EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "EVIN2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:20474",
                "gene_name": "transmembrane channel like 8",
                "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",
            "entity_name": "TMC8",
            "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"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "KIAA0243",
                    "LAM",
                    "hamartin"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12362",
                "gene_name": "TSC complex subunit 1",
                "omim_gene": [
                    "605284"
                ],
                "alias_name": [
                    "hamartin"
                ],
                "gene_symbol": "TSC1",
                "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",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "10227394"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "Tuberous sclerosis",
                "TSC1",
                "TUBEROUS SCLEROSIS 1"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "tuberin",
                    "LAM",
                    "PPP1R160"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12363",
                "gene_name": "TSC complex subunit 2",
                "omim_gene": [
                    "191092"
                ],
                "alias_name": [
                    "protein phosphatase 1, regulatory subunit 160"
                ],
                "gene_symbol": "TSC2",
                "hgnc_symbol": "TSC2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:2097466-2138716",
                            "ensembl_id": "ENSG00000103197"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:2047465-2088720",
                            "ensembl_id": "ENSG00000103197"
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                    }
                },
                "hgnc_date_symbol_changed": "1989-05-25"
            },
            "entity_type": "gene",
            "entity_name": "TSC2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "12111193"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
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                "Tuberous sclerosis",
                "TUBEROUS SCLEROSIS 2",
                "TSC2"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "OCAIA",
                    "OCA1A",
                    "OCA1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12442",
                "gene_name": "tyrosinase",
                "omim_gene": [
                    "606933"
                ],
                "alias_name": [
                    "oculocutaneous albinism IA"
                ],
                "gene_symbol": "TYR",
                "hgnc_symbol": "TYR",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:88910620-89028927",
                            "ensembl_id": "ENSG00000077498"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:89177452-89295759",
                            "ensembl_id": "ENSG00000077498"
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                    }
                },
                "hgnc_date_symbol_changed": "1988-08-16"
            },
            "entity_type": "gene",
            "entity_name": "TYR",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "18326704"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "Albinism, oculocutaneous, type IA, OMIM:203100",
                "Albinism, oculocutaneous, type IB, OMIM:606952",
                "Waardenburg syndrome/albinism, digenic, OMIM:103470"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "GP75",
                    "CATB",
                    "TRP",
                    "b-PROTEIN",
                    "OCA3"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12450",
                "gene_name": "tyrosinase related protein 1",
                "omim_gene": [
                    "115501"
                ],
                "alias_name": null,
                "gene_symbol": "TYRP1",
                "hgnc_symbol": "TYRP1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:12685439-12710290",
                            "ensembl_id": "ENSG00000107165"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:12685439-12710290",
                            "ensembl_id": "ENSG00000107165"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-09-04"
            },
            "entity_type": "gene",
            "entity_name": "TYRP1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "9345097"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "Oculocutaneous albinism",
                "OCA3",
                "ALBINISM, OCULOCUTANEOUS, TYPE III"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "HSPC150",
                    "FANCT"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25009",
                "gene_name": "ubiquitin conjugating enzyme E2 T",
                "omim_gene": [
                    "610538"
                ],
                "alias_name": null,
                "gene_symbol": "UBE2T",
                "hgnc_symbol": "UBE2T",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:202300785-202311108",
                            "ensembl_id": "ENSG00000077152"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:202331657-202341980",
                            "ensembl_id": "ENSG00000077152"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-03-21"
            },
            "entity_type": "gene",
            "entity_name": "UBE2T",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "26046368"
            ],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
            ],
            "phenotypes": [
                "FANCT",
                "FANCONI ANEMIA, COMPLEMENTATION GROUP T"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ13154",
                    "HVSL1",
                    "Mpn1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25792",
                "gene_name": "U6 snRNA biogenesis phosphodiesterase 1",
                "omim_gene": [
                    "613276"
                ],
                "alias_name": [
                    "HVSL motif containing 1",
                    "poikiloderma with neutropenia",
                    "U six biogenesis 1",
                    "mutated in poikiloderma with neutropenia protein 1"
                ],
                "gene_symbol": "USB1",
                "hgnc_symbol": "USB1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:58033450-58055522",
                            "ensembl_id": "ENSG00000103005"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:57999546-58021618",
                            "ensembl_id": "ENSG00000103005"
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                    }
                },
                "hgnc_date_symbol_changed": "2012-08-21"
            },
            "entity_type": "gene",
            "entity_name": "USB1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "20004881"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "Poikiloderma with neutropenia",
                "PN",
                "POIKILODERMA WITH NEUTROPENIA"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "DFFRX",
                    "FAF",
                    "MRX99"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12632",
                "gene_name": "ubiquitin specific peptidase 9, X-linked",
                "omim_gene": [
                    "300072"
                ],
                "alias_name": null,
                "gene_symbol": "USP9X",
                "hgnc_symbol": "USP9X",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:40944888-41095832",
                            "ensembl_id": "ENSG00000124486"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:41085635-41236579",
                            "ensembl_id": "ENSG00000124486"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-02-01"
            },
            "entity_type": "gene",
            "entity_name": "USP9X",
            "confidence_level": "3",
            "penetrance": "unknown",
            "mode_of_pathogenicity": null,
            "publications": [
                "26833328"
            ],
            "evidence": [
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "Intellectual developmental disorder, X-linked 99, syndromic, female-restricted, OMIM:300968"
            ],
            "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": [
                    "FLJ10385",
                    "TCAB1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25522",
                "gene_name": "WD repeat containing antisense to TP53",
                "omim_gene": [
                    "612661"
                ],
                "alias_name": [
                    "telomerase cajal body protein 1",
                    "WD-encoding RNA antisense to p53"
                ],
                "gene_symbol": "WRAP53",
                "hgnc_symbol": "WRAP53",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:7589389-7606820",
                            "ensembl_id": "ENSG00000141499"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:7686071-7703502",
                            "ensembl_id": "ENSG00000141499"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2009-02-16"
            },
            "entity_type": "gene",
            "entity_name": "WRAP53",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "21205863"
            ],
            "evidence": [
                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
            ],
            "phenotypes": [
                "Dyskeratosis congenita",
                "DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3",
                "DKCB3"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "PMP69",
                    "P70R",
                    "EST352188"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:68",
                "gene_name": "ATP binding cassette subfamily D member 4",
                "omim_gene": [
                    "603214"
                ],
                "alias_name": null,
                "gene_symbol": "ABCD4",
                "hgnc_symbol": "ABCD4",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:74752126-74769759",
                            "ensembl_id": "ENSG00000119688"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "14:74285423-74303056",
                            "ensembl_id": "ENSG00000119688"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-10-27"
            },
            "entity_type": "gene",
            "entity_name": "ABCD4",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "25234635"
            ],
            "evidence": [
                "Expert Review Amber",
                "London North GLH",
                "NHS GMS"
            ],
            "phenotypes": [
                "Progressive hyperpigmentation due to VitB12 metabolism defect"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "ABP-280"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3754",
                "gene_name": "filamin A",
                "omim_gene": [
                    "300017"
                ],
                "alias_name": [
                    "actin binding protein 280",
                    "alpha filamin"
                ],
                "gene_symbol": "FLNA",
                "hgnc_symbol": "FLNA",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:153576892-153603006",
                            "ensembl_id": "ENSG00000196924"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:154348524-154374638",
                            "ensembl_id": "ENSG00000196924"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-03-18"
            },
            "entity_type": "gene",
            "entity_name": "FLNA",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "17152064",
                "18792982",
                "20598277",
                "30561107"
            ],
            "evidence": [
                "Expert Review Amber",
                "London North GLH",
                "NHS GMS"
            ],
            "phenotypes": [
                "Terminal osseous dysplasia, OMIM:300244"
            ],
            "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": [
                    "CRL3",
                    "GLM-R",
                    "CRL",
                    "Glmr",
                    "IL-31RA"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:18969",
                "gene_name": "interleukin 31 receptor A",
                "omim_gene": [
                    "609510"
                ],
                "alias_name": null,
                "gene_symbol": "IL31RA",
                "hgnc_symbol": "IL31RA",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:55147207-55218678",
                            "ensembl_id": "ENSG00000164509"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:55851379-55922853",
                            "ensembl_id": "ENSG00000164509"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-11-06"
            },
            "entity_type": "gene",
            "entity_name": "IL31RA",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Amber"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "HGPS",
                    "MADA"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6636",
                "gene_name": "lamin A/C",
                "omim_gene": [
                    "150330"
                ],
                "alias_name": [
                    "mandibuloacral dysplasia type A"
                ],
                "gene_symbol": "LMNA",
                "hgnc_symbol": "LMNA",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:156052364-156109880",
                            "ensembl_id": "ENSG00000160789"
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                    },
                    "GRch38": {
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                            "location": "1:156082573-156140089",
                            "ensembl_id": "ENSG00000160789"
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                    }
                },
                "hgnc_date_symbol_changed": "1992-04-09"
            },
            "entity_type": "gene",
            "entity_name": "LMNA",
            "confidence_level": "2",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
            "publications": [
                "12714972",
                "12075506",
                "17848409"
            ],
            "evidence": [
                "Expert Review Amber",
                "Expert list"
            ],
            "phenotypes": [
                "Hutchinson-Gilford progeria, OMIM:176670",
                "Hutchinson-Gilford progeria syndrome, MONDO:0008310",
                "Mandibuloacral dysplasia, OMIM:248370",
                "mandibuloacral dysplasia with type A lipodystrophy MONDO:0009557"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [
                "Q1_24_promote_green",
                "Q1_24_NHS_review"
            ],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ14909",
                    "dJ468K18.4"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:21173",
                "gene_name": "LTV1 ribosome biogenesis factor",
                "omim_gene": null,
                "alias_name": null,
                "gene_symbol": "LTV1",
                "hgnc_symbol": "LTV1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:144164481-144184949",
                            "ensembl_id": "ENSG00000135521"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:143843344-143863812",
                            "ensembl_id": "ENSG00000135521"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-02-06"
            },
            "entity_type": "gene",
            "entity_name": "LTV1",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "34999892"
            ],
            "evidence": [
                "Expert Review Amber",
                "Literature"
            ],
            "phenotypes": [
                "Inflammatory poikiloderma with hair abnormalities and acral keratoses, OMIM:620199"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": []
        },
        {
            "gene_data": {
                "alias": [
                    "MAD2B",
                    "REV7",
                    "POLZ2",
                    "FANCV"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6764",
                "gene_name": "mitotic arrest deficient 2 like 2",
                "omim_gene": [
                    "604094"
                ],
                "alias_name": [
                    "mitotic arrest deficient homolog-like 2",
                    "polymerase (DNA-directed), zeta 2, accessory subunit"
                ],
                "gene_symbol": "MAD2L2",
                "hgnc_symbol": "MAD2L2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "1:11734537-11751707",
                            "ensembl_id": "ENSG00000116670"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "1:11674480-11691650",
                            "ensembl_id": "ENSG00000116670"
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                    }
                },
                "hgnc_date_symbol_changed": "1999-06-22"
            },
            "entity_type": "gene",
            "entity_name": "MAD2L2",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "27500492"
            ],
            "evidence": [
                "Expert Review Amber",
                "Expert Review"
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                "FANCV",
                "FANCONI ANEMIA, COMPLEMENTATION GROUP V"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "l1Rk3",
                    "l(1)-3Rk",
                    "Slac-2a",
                    "ln",
                    "exophilin-3"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:29643",
                "gene_name": "melanophilin",
                "omim_gene": [
                    "606526"
                ],
                "alias_name": null,
                "gene_symbol": "MLPH",
                "hgnc_symbol": "MLPH",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "2:238394071-238463961",
                            "ensembl_id": "ENSG00000115648"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "2:237485428-237555318",
                            "ensembl_id": "ENSG00000115648"
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                    }
                },
                "hgnc_date_symbol_changed": "2004-01-09"
            },
            "entity_type": "gene",
            "entity_name": "MLPH",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Amber"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "ESSS",
                    "NP17.3",
                    "Np15"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:20372",
                "gene_name": "NADH:ubiquinone oxidoreductase subunit B11",
                "omim_gene": [
                    "300403"
                ],
                "alias_name": [
                    "complex I NP17.3 subunit"
                ],
                "gene_symbol": "NDUFB11",
                "hgnc_symbol": "NDUFB11",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:47001615-47004903",
                            "ensembl_id": "ENSG00000147123"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "X:47142216-47145504",
                            "ensembl_id": "ENSG00000147123"
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                    }
                },
                "hgnc_date_symbol_changed": "2004-09-02"
            },
            "entity_type": "gene",
            "entity_name": "NDUFB11",
            "confidence_level": "2",
            "penetrance": "unknown",
            "mode_of_pathogenicity": null,
            "publications": [
                "33670341"
            ],
            "evidence": [
                "Expert Review Amber",
                "Other"
            ],
            "phenotypes": [
                "Linear skin defects with multiple congenital anomalies 3, OMIM:300952"
            ],
            "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": [
                    "RAD51L2",
                    "FANCO"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9820",
                "gene_name": "RAD51 paralog C",
                "omim_gene": [
                    "602774"
                ],
                "alias_name": null,
                "gene_symbol": "RAD51C",
                "hgnc_symbol": "RAD51C",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:56769934-56811703",
                            "ensembl_id": "ENSG00000108384"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "17:58692573-58735611",
                            "ensembl_id": "ENSG00000108384"
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                    }
                },
                "hgnc_date_symbol_changed": "1998-02-26"
            },
            "entity_type": "gene",
            "entity_name": "RAD51C",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "20400963"
            ],
            "evidence": [
                "Expert Review Amber",
                "Expert Review"
            ],
            "phenotypes": [
                "FANCONI ANEMIA, COMPLEMENTATION GROUP O",
                "FANCO"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "SLUGH1",
                    "SNAIL2",
                    "SLUGH"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11094",
                "gene_name": "snail family transcriptional repressor 2",
                "omim_gene": [
                    "602150"
                ],
                "alias_name": null,
                "gene_symbol": "SNAI2",
                "hgnc_symbol": "SNAI2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "8:49830249-49834299",
                            "ensembl_id": "ENSG00000019549"
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                    },
                    "GRch38": {
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                            "location": "8:48917768-48921740",
                            "ensembl_id": "ENSG00000019549"
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                    }
                },
                "hgnc_date_symbol_changed": "2002-02-28"
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            "entity_type": "gene",
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