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{
    "id": 307,
    "name": "Retinal disorders",
    "strs": [],
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        {
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                "Expert Review Green"
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                "Stargardt Disease 1",
                "STGD1"
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                "Expert Review Green"
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            "penetrance": "Complete",
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                "Eye Disorders",
                "Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa andCataract (PHARC)",
                "Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857"
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                "Expert Review Green"
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            },
            "penetrance": "Complete",
            "phenotypes": [
                "Infantile cerebellar-retinal degeneration, 614559"
            ],
            "transcript": null,
            "entity_name": "ACO2",
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            "confidence_level": "3",
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            "mode_of_pathogenicity": ""
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            "tags": [],
            "evidence": [
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                "Expert Review Green"
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            "gene_data": {
                "alias": [
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                "hgnc_id": "HGNC:216",
                "gene_name": "ADAM metallopeptidase domain 9",
                "omim_gene": [
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                "alias_name": [
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                "hgnc_symbol": "ADAM9",
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                },
                "hgnc_date_symbol_changed": "1998-12-01"
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            "penetrance": "Complete",
            "phenotypes": [
                "Achromatopsia, Cone, and Cone-rod Dystrophy",
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                "Cone-Rod Dystrophy, Recessive",
                "Cone-rod dystrophy 9, 612775"
            ],
            "transcript": null,
            "entity_name": "ADAM9",
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            "confidence_level": "3",
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            "mode_of_pathogenicity": ""
        },
        {
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            "evidence": [
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                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
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                "gene_name": "ADAM metallopeptidase with thrombospondin type 1 motif 18",
                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "ADAMTS18",
                "hgnc_symbol": "ADAMTS18",
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                "ensembl_genes": {
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                },
                "hgnc_date_symbol_changed": "2002-02-13"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Genetic Retinal Degeneration Conditions",
                "Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458"
            ],
            "transcript": null,
            "entity_name": "ADAMTS18",
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            "mode_of_pathogenicity": ""
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        {
            "tags": [],
            "evidence": [
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                "Expert Review Green"
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            "gene_data": {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17416",
                "gene_name": "adhesion G protein-coupled receptor V1",
                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "ADGRV1",
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                },
                "hgnc_date_symbol_changed": "2015-03-03"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Usher syndrome, type 2C, 605472",
                "Eye Disorders",
                "Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472"
            ],
            "transcript": null,
            "entity_name": "ADGRV1",
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
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        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Other"
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            "gene_data": {
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                    "CCP5"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:26147",
                "gene_name": "ATP/GTP binding protein like 5",
                "omim_gene": [
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                "alias_name": [
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                "gene_symbol": "AGBL5",
                "hgnc_symbol": "AGBL5",
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                "hgnc_date_symbol_changed": "2007-03-27"
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            "penetrance": "Complete",
            "phenotypes": [
                "Retinitis pigmentosa 75, 617023"
            ],
            "transcript": null,
            "entity_name": "AGBL5",
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                "27764769",
                "27842159"
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            "mode_of_pathogenicity": ""
        },
        {
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                "gene_name": "Abelson helper integration site 1",
                "omim_gene": [
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                "alias_name": [
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            },
            "penetrance": "Complete",
            "phenotypes": [
                "Eye Disorders",
                "Joubert syndrome 3, 608629"
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                "alias_name": null,
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                "Leber congenital  amaurosis 4 (AR)",
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            "phenotypes": [
                "Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300"
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            "mode_of_pathogenicity": ""
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            "penetrance": "Complete",
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                "Retinitis pigmentosa 78 617433"
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                "Bardet-Biedl syndrome 3, 209900",
                "{Bardet-Biedl syndrome 1, modifier of}, 209900",
                "Retinitis pigmentosa 55, 613575",
                "Retinitis Pigmentosa, Recessive"
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                    "activating transcription factor 6 alpha"
                ],
                "gene_symbol": "ATF6",
                "hgnc_symbol": "ATF6",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:161736084-161933860",
                            "ensembl_id": "ENSG00000118217"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:161766294-161964070",
                            "ensembl_id": "ENSG00000118217"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-12-15"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Achromatopsia 7, 616517"
            ],
            "transcript": null,
            "entity_name": "ATF6",
            "entity_type": "gene",
            "publications": [
                "26063662",
                "26029869"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "Math5",
                    "bHLHa13"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13907",
                "gene_name": "atonal bHLH transcription factor 7",
                "omim_gene": [
                    "609875"
                ],
                "alias_name": null,
                "gene_symbol": "ATOH7",
                "hgnc_symbol": "ATOH7",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:69990386-69991871",
                            "ensembl_id": "ENSG00000179774"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:68230624-68232103",
                            "ensembl_id": "ENSG00000179774"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2002-07-05"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Persistent hyperplastic primary vitreous, autosomal recessive, 221900",
                "multiple ocular developmental defects, including severe vitreoretinal dysplasia, optic nerve hypoplasia, persistent fetal vasculature, microphthalmia, congenital cataracts, microcornea, corneal opacity and nystagmus"
            ],
            "transcript": null,
            "entity_name": "ATOH7",
            "entity_type": "gene",
            "publications": [
                "PMID: 22068589",
                "PMID: 22068589",
                "PMID: 26933893",
                "PMID: 24689660",
                "PMID: 24457358",
                "PMID: 23802135 - not associated with optic nerve hypoplasia",
                "PMID: 22645276 - report that variants in this gene cause autosomal recessive persistent hyperplasia of the primary vitreous \"Our results strongly suggest that autosomal recessive persistent hyperplastic primary vitreous is caused by N46H and is etiologically related to nonsyndromic congenital retinal nonattachment. The R65G allele, however, cannot explain the ONA phenotype. Our study firmly establishes ATOH7 as a retinal disease gene and provides a functional basis to analyze new coding variants\"",
                "PMID: 22584021",
                "PMID: 21441919",
                "PMID: 21398277",
                "PMID: 21427129",
                "PMID: 21307088",
                "PMID: 20395239",
                "PMID: 11889557"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "FLJ23590"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:966",
                "gene_name": "Bardet-Biedl syndrome 1",
                "omim_gene": [
                    "209901"
                ],
                "alias_name": null,
                "gene_symbol": "BBS1",
                "hgnc_symbol": "BBS1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:66278077-66301098",
                            "ensembl_id": "ENSG00000174483"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:66510606-66533627",
                            "ensembl_id": "ENSG00000174483"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-01-28"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Eye Disorders",
                "Retinitis pigmentosa",
                "Bardet-Biedl syndrome 1, 209900"
            ],
            "transcript": null,
            "entity_name": "BBS1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "FLJ23560"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:26291",
                "gene_name": "Bardet-Biedl syndrome 10",
                "omim_gene": [
                    "610148"
                ],
                "alias_name": null,
                "gene_symbol": "BBS10",
                "hgnc_symbol": "BBS10",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:76738254-76742222",
                            "ensembl_id": "ENSG00000179941"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:76344474-76348442",
                            "ensembl_id": "ENSG00000179941"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-04-28"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Eye Disorders",
                "Bardet-Biedl syndrome 10, 615987"
            ],
            "transcript": null,
            "entity_name": "BBS10",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "FLJ35630",
                    "FLJ41559"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:26648",
                "gene_name": "Bardet-Biedl syndrome 12",
                "omim_gene": [
                    "610683"
                ],
                "alias_name": null,
                "gene_symbol": "BBS12",
                "hgnc_symbol": "BBS12",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:123653857-123666098",
                            "ensembl_id": "ENSG00000181004"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:122732702-122744943",
                            "ensembl_id": "ENSG00000181004"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-12-13"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Eye Disorders",
                "Bardet-Biedl syndrome 12, 615989"
            ],
            "transcript": null,
            "entity_name": "BBS12",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:967",
                "gene_name": "Bardet-Biedl syndrome 2",
                "omim_gene": [
                    "606151"
                ],
                "alias_name": null,
                "gene_symbol": "BBS2",
                "hgnc_symbol": "BBS2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:56500748-56554195",
                            "ensembl_id": "ENSG00000125124"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:56466836-56520283",
                            "ensembl_id": "ENSG00000125124"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-10-26"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Eye Disorders",
                "Bardet-Biedl syndrome 2, 615981",
                "Retinitis pigmentosa 74, 616562"
            ],
            "transcript": null,
            "entity_name": "BBS2",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:969",
                "gene_name": "Bardet-Biedl syndrome 4",
                "omim_gene": [
                    "600374"
                ],
                "alias_name": null,
                "gene_symbol": "BBS4",
                "hgnc_symbol": "BBS4",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:72978527-73030817",
                            "ensembl_id": "ENSG00000140463"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "15:72686179-72738476",
                            "ensembl_id": "ENSG00000140463"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1995-07-11"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Eye Disorders",
                "Bardet-Biedl syndrome 4, 615982"
            ],
            "transcript": null,
            "entity_name": "BBS4",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "DKFZp762I194"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:970",
                "gene_name": "Bardet-Biedl syndrome 5",
                "omim_gene": [
                    "603650"
                ],
                "alias_name": null,
                "gene_symbol": "BBS5",
                "hgnc_symbol": "BBS5",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:170335688-170382432",
                            "ensembl_id": "ENSG00000163093"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:169479178-169506655",
                            "ensembl_id": "ENSG00000163093"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-03-25"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Eye Disorders",
                "Bardet-Biedl syndrome 5, 615983"
            ],
            "transcript": null,
            "entity_name": "BBS5",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "FLJ10715",
                    "BBS2L1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:18758",
                "gene_name": "Bardet-Biedl syndrome 7",
                "omim_gene": [
                    "607590"
                ],
                "alias_name": null,
                "gene_symbol": "BBS7",
                "hgnc_symbol": "BBS7",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:122745595-122791652",
                            "ensembl_id": "ENSG00000138686"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:121824440-121870497",
                            "ensembl_id": "ENSG00000138686"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-02-05"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Eye Disorders",
                "Bardet-Biedl syndrome 7, 615984"
            ],
            "transcript": null,
            "entity_name": "BBS7",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "B1",
                    "PTHB1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:30000",
                "gene_name": "Bardet-Biedl syndrome 9",
                "omim_gene": [
                    "607968"
                ],
                "alias_name": [
                    "parathyroid hormone responsive B1 gene"
                ],
                "gene_symbol": "BBS9",
                "hgnc_symbol": "BBS9",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:33168856-33645680",
                            "ensembl_id": "ENSG00000122507"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:33129244-33606068",
                            "ensembl_id": "ENSG00000122507"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-01-18"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Eye Disorders",
                "Bardet-Biedl syndrome 9, 615986"
            ],
            "transcript": null,
            "entity_name": "BBS9",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Eligibility statement prior genetic testing",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "BMD",
                    "BEST",
                    "RP50"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12703",
                "gene_name": "bestrophin 1",
                "omim_gene": [
                    "607854"
                ],
                "alias_name": [
                    "Best disease"
                ],
                "gene_symbol": "BEST1",
                "hgnc_symbol": "BEST1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:61717293-61732987",
                            "ensembl_id": "ENSG00000167995"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:61949821-61965515",
                            "ensembl_id": "ENSG00000167995"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-10-18"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Achromatopsia, Cone, and Cone-rod Dystrophy",
                "Best macular atrophy (AD)",
                "Bestrophinopathy (AR)",
                "Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma (AD)",
                "Retinitis  pigmentosa, concentric (AD)",
                "Retinitis pigmentosa-50 (AD)",
                "Vitelliform macular dystrophy, adult-onset (AD)",
                "Vitreoretinochoroidopathy (AD)",
                "Best macular dystrophy, 153700",
                "Maculopathy, bull's-eye",
                "Vitelliform macular dystrophy, adult-onset, 608161",
                "Bestrophinopathy, 611809",
                "Vitreoretinochoroidopathy, 193220",
                "Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 1",
                "Best Vitelliform Macular Dystrophy",
                "Eye Disorders",
                "Retinitis pigmentosa",
                "Retinitis Pigmentosa, Recessive",
                "Best macular dystrophy, 153700",
                "Macular Dystrophy/Degeneration/Stargardt Disease",
                "Macular Dystrophy, Vitelliform",
                "VMD",
                "Macular Dystrophy, Vitelliform, Adult-Onset",
                "Best macular dystrophy"
            ],
            "transcript": null,
            "entity_name": "BEST1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "CTRP5",
                    "DKFZp586B0621",
                    "LORD"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14344",
                "gene_name": "C1q and TNF related 5",
                "omim_gene": [
                    "608752"
                ],
                "alias_name": [
                    "complement-c1q tumor necrosis factor-related protein 5",
                    "myonectin"
                ],
                "gene_symbol": "C1QTNF5",
                "hgnc_symbol": "C1QTNF5",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:119209652-119217383",
                            "ensembl_id": "ENSG00000223953"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:119338939-119340940",
                            "ensembl_id": "ENSG00000223953"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-10-02"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Eye Disorders",
                "Retinal Degeneration",
                "Retinitis pigmentosa",
                "Retinal degeneration, late-onset, autosomal dominant, 605670"
            ],
            "transcript": null,
            "entity_name": "C1QTNF5",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "new-gene-name"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "YF5",
                    "A2",
                    "LRRC76"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1260",
                "gene_name": "chromosome 21 open reading frame 2",
                "omim_gene": [
                    "603191"
                ],
                "alias_name": [
                    "nuclear encoded mitochondrial protein",
                    "leucine rich repeat containing 76"
                ],
                "gene_symbol": "C21orf2",
                "hgnc_symbol": "C21orf2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "21:45748827-45759285",
                            "ensembl_id": "ENSG00000160226"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "21:44328944-44339402",
                            "ensembl_id": "ENSG00000160226"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-08-06"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Retinal dystrophy with macular staphyloma, 617547"
            ],
            "transcript": null,
            "entity_name": "C21orf2",
            "entity_type": "gene",
            "publications": [
                "23105016",
                "26294103",
                "27548899"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "new-gene-name"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "FLJ34931",
                    "RP54"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:34383",
                "gene_name": "chromosome 2 open reading frame 71",
                "omim_gene": [
                    "613425"
                ],
                "alias_name": null,
                "gene_symbol": "C2orf71",
                "hgnc_symbol": "C2orf71",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:29283842-29297127",
                            "ensembl_id": "ENSG00000179270"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:29060976-29074261",
                            "ensembl_id": "ENSG00000179270"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2008-07-07"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Eye Disorders",
                "Retinitis pigmentosa 54, 613428",
                "Retinitis pigmentosa",
                "Retinitis Pigmentosa, Recessive"
            ],
            "transcript": null,
            "entity_name": "C2orf71",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "FLJ30600",
                    "CORD16",
                    "RP64",
                    "BBS21"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:27232",
                "gene_name": "chromosome 8 open reading frame 37",
                "omim_gene": [
                    "614477"
                ],
                "alias_name": null,
                "gene_symbol": "C8orf37",
                "hgnc_symbol": "C8orf37",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "8:96257147-96281429",
                            "ensembl_id": "ENSG00000156172"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "8:95244919-95269201",
                            "ensembl_id": "ENSG00000156172"
                        }
                    }
                },
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        {
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            "transcript": null,
            "entity_name": "CABP4",
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        },
        {
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                "NHS GMS",
                "Expert Review Green"
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            "gene_data": {
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                "biotype": "protein_coding",
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            "transcript": null,
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        {
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                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [],
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                "hgnc_id": "HGNC:20202",
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                "omim_gene": [
                    "608171"
                ],
                "alias_name": null,
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                "hgnc_symbol": "CACNA2D4",
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                    },
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                "hgnc_date_symbol_changed": "2003-01-06"
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            "penetrance": "Complete",
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                "Retinal cone dystrophy 4, 610478",
                "Congenital Stationary Night Blindness",
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            "mode_of_pathogenicity": ""
        },
        {
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                "Expert Review Green"
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            "gene_data": {
                "alias": [
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                    "HTRA3",
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1482",
                "gene_name": "calpain 5",
                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "CAPN5",
                "hgnc_symbol": "CAPN5",
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                "ensembl_genes": {
                    "GRch37": {
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                            "location": "11:76777979-76837201",
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                    },
                    "GRch38": {
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                },
                "hgnc_date_symbol_changed": "1997-11-05"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Genetic Retinal Degeneration Conditions"
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            "transcript": null,
            "entity_name": "CAPN5",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
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                    "MKS6",
                    "JBTS9"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:29253",
                "gene_name": "coiled-coil and C2 domain containing 2A",
                "omim_gene": [
                    "612013"
                ],
                "alias_name": [
                    "Meckel syndrome, type 6"
                ],
                "gene_symbol": "CC2D2A",
                "hgnc_symbol": "CC2D2A",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:15471489-15603180",
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                    },
                    "GRch38": {
                        "90": {
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                },
                "hgnc_date_symbol_changed": "2007-10-19"
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            "penetrance": "Complete",
            "phenotypes": [
                "COACH syndrome, 216360",
                "Joubert syndrome 9, 612285",
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                "Eye Disorders"
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            "transcript": null,
            "entity_name": "CC2D2A",
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "CDHR23"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13733",
                "gene_name": "cadherin related 23",
                "omim_gene": [
                    "605516"
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                "alias_name": [
                    "cadherin-related family member 23"
                ],
                "gene_symbol": "CDH23",
                "hgnc_symbol": "CDH23",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:73156691-73575702",
                            "ensembl_id": "ENSG00000107736"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "10:71396934-71815947",
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                },
                "hgnc_date_symbol_changed": "2000-10-19"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Eye Disorders"
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            "transcript": null,
            "entity_name": "CDH23",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "CDHP",
                    "PCAD"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1762",
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                "omim_gene": [
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                "alias_name": [
                    "P-cadherin"
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                "gene_symbol": "CDH3",
                "hgnc_symbol": "CDH3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:68670092-68756519",
                            "ensembl_id": "ENSG00000062038"
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                    },
                    "GRch38": {
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                "hgnc_date_symbol_changed": "1992-07-10"
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            "penetrance": "Complete",
            "phenotypes": [
                "i Hypotrichosis, congenital, with juvenile macular dystrophy, 601553Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280",
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                "Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280",
                "Macular Dystrophy/Degeneration/Stargardt Disease",
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            "transcript": null,
            "entity_name": "CDH3",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
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        {
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                "Expert Review Green"
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            "gene_data": {
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                    "CORD15",
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14550",
                "gene_name": "cadherin related family member 1",
                "omim_gene": [
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                ],
                "alias_name": null,
                "gene_symbol": "CDHR1",
                "hgnc_symbol": "CDHR1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                    },
                    "GRch38": {
                        "90": {
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                "hgnc_date_symbol_changed": "2010-01-25"
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                "Eye Disorders",
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            "transcript": null,
            "entity_name": "CDHR1",
            "entity_type": "gene",
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            "confidence_level": "3",
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        },
        {
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            "evidence": [
                "NHS GMS",
                "Expert Review Green"
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            "gene_data": {
                "alias": [
                    "KIAA1052",
                    "NPHP15"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:29182",
                "gene_name": "centrosomal protein 164",
                "omim_gene": [
                    "614848"
                ],
                "alias_name": null,
                "gene_symbol": "CEP164",
                "hgnc_symbol": "CEP164",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
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                    },
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                "hgnc_date_symbol_changed": "2005-12-01"
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            "penetrance": "Complete",
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            "transcript": null,
            "entity_name": "CEP164",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
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        {
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                "Expert Review Green"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:29021",
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                "hgnc_date_symbol_changed": "2006-02-20"
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            "penetrance": "Complete",
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                "Meckel syndrome 4, 611134",
                "Bardet-Biedl syndrome 14, 209900",
                "Leber Congenital Amaurosis",
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            "transcript": null,
            "entity_name": "CEP290",
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            "confidence_level": "3",
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            "mode_of_pathogenicity": ""
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        {
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                "NHS GMS",
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            "gene_data": {
                "alias": [
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25740",
                "gene_name": "centrosomal protein 78",
                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "CEP78",
                "hgnc_symbol": "CEP78",
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                "ensembl_genes": {
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                        "82": {
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                            "ensembl_id": "ENSG00000148019"
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                    },
                    "GRch38": {
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                },
                "hgnc_date_symbol_changed": "2005-12-01"
            },
            "penetrance": "Complete",
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                "Cone-Rod Dystrophy and Hearing Loss",
                "CRDHL",
                "OMIM: 617236"
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            "transcript": null,
            "entity_name": "CEP78",
            "entity_type": "gene",
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                "27588451",
                "27588452",
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            "confidence_level": "3",
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            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:21699",
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                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "CERKL",
                "hgnc_symbol": "CERKL",
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                "ensembl_genes": {
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            "penetrance": "Complete",
            "phenotypes": [
                "Retinitis pigmentosa 26, RP26 (AR)",
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                "Retinitis Pigmentosa, Recessive",
                "Retinitis pigmentosa 26, 608380"
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            "transcript": null,
            "entity_name": "CERKL",
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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                "hgnc_symbol": "CFH",
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                "hgnc_date_symbol_changed": "2004-08-12"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "{Macular degeneration, age-related, 4} 610698",
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            "transcript": null,
            "entity_name": "CFH",
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            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
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        {
            "tags": [
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            "gene_data": {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1940",
                "gene_name": "CHM, Rab escort protein 1",
                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "CHM",
                "hgnc_symbol": "CHM",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                "hgnc_date_symbol_changed": "2001-06-22"
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            "penetrance": "Complete",
            "phenotypes": [
                "Choroideremia",
                "Eye Disorders",
                "Retinitis pigmentosa",
                "Choroideremia (degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye)"
            ],
            "transcript": null,
            "entity_name": "CHM",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
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                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:24579",
                "gene_name": "calcium and integrin binding family member 2",
                "omim_gene": [
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                "gene_symbol": "CIB2",
                "hgnc_symbol": "CIB2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                "hgnc_date_symbol_changed": "2004-04-20"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Eye Disorders"
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            "transcript": null,
            "entity_name": "CIB2",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
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            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
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                    "BTN1"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2074",
                "gene_name": "CLN3, battenin",
                "omim_gene": [
                    "607042"
                ],
                "alias_name": [
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                ],
                "gene_symbol": "CLN3",
                "hgnc_symbol": "CLN3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:28477983-28506896",
                            "ensembl_id": "ENSG00000188603"
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                    },
                    "GRch38": {
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                            "location": "16:28474111-28495575",
                            "ensembl_id": "ENSG00000188603"
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                },
                "hgnc_date_symbol_changed": "1989-06-06"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Eye Disorders",
                "Retinitis pigmentosa"
            ],
            "transcript": null,
            "entity_name": "CLN3",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "NHS GMS"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2076",
                "gene_name": "CLN5, intracellular trafficking protein",
                "omim_gene": [
                    "608102"
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                "alias_name": null,
                "gene_symbol": "CLN5",
                "hgnc_symbol": "CLN5",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "13:77564795-77576652",
                            "ensembl_id": "ENSG00000102805"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "13:76990660-77019143",
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                    }
                },
                "hgnc_date_symbol_changed": "1993-11-03"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Eye Disorders",
                "Ceroid lipofuscinosis, neuronal, 5, 256731"
            ],
            "transcript": null,
            "entity_name": "CLN5",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "NHS GMS"
            ],
            "gene_data": {
                "alias": [
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                    "HsT18960",
                    "nclf"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2077",
                "gene_name": "CLN6, transmembrane ER protein",
                "omim_gene": [
                    "606725"
                ],
                "alias_name": null,
                "gene_symbol": "CLN6",
                "hgnc_symbol": "CLN6",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:68499330-68549549",
                            "ensembl_id": "ENSG00000128973"
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                    },
                    "GRch38": {
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                            "location": "15:68206992-68257211",
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                },
                "hgnc_date_symbol_changed": "1996-10-11"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Eye Disorders",
                "Ceroid lipofuscinosis, neuronal, 6 601780"
            ],
            "transcript": null,
            "entity_name": "CLN6",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "NHS GMS"
            ],
            "gene_data": {
                "alias": [
                    "FLJ39417"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2079",
                "gene_name": "CLN8, transmembrane ER and ERGIC protein",
                "omim_gene": [
                    "607837"
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                "alias_name": null,
                "gene_symbol": "CLN8",
                "hgnc_symbol": "CLN8",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "8:1703944-1734738",
                            "ensembl_id": "ENSG00000182372"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "8:1755778-1801711",
                            "ensembl_id": "ENSG00000182372"
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                    }
                },
                "hgnc_date_symbol_changed": "1993-12-15"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Eye Disorders",
                "Ceroid lipofuscinosis, neuronal, 8, 600143"
            ],
            "transcript": null,
            "entity_name": "CLN8",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12605",
                "gene_name": "clarin 1",
                "omim_gene": [
                    "606397"
                ],
                "alias_name": null,
                "gene_symbol": "CLRN1",
                "hgnc_symbol": "CLRN1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "3:150643950-150690786",
                            "ensembl_id": "ENSG00000163646"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:150926163-150972999",
                            "ensembl_id": "ENSG00000163646"
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                    }
                },
                "hgnc_date_symbol_changed": "2006-11-23"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Eye Disorders",
                "?Usher syndrome, type 3A, 276902",
                "Retinitis pigmentosa 61, 614180"
            ],
            "transcript": null,
            "entity_name": "CLRN1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "RCNC1",
                    "RCNCa",
                    "CNG1",
                    "RP49"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2148",
                "gene_name": "cyclic nucleotide gated channel alpha 1",
                "omim_gene": [
                    "123825"
                ],
                "alias_name": null,
                "gene_symbol": "CNGA1",
                "hgnc_symbol": "CNGA1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:47937994-48018689",
                            "ensembl_id": "ENSG00000198515"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "4:47935977-48016672",
                            "ensembl_id": "ENSG00000198515"
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                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Retinitis pigmentosa 49, RP49 (AR)",
                "Eye Disorders",
                "Retinitis pigmentosa",
                "Retinitis Pigmentosa, Recessive",
                "Retinitis pigmentosa 49, 613756"
            ],
            "transcript": null,
            "entity_name": "CNGA1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "CCNC1",
                    "CCNCa",
                    "CNG3"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2150",
                "gene_name": "cyclic nucleotide gated channel alpha 3",
                "omim_gene": [
                    "600053"
                ],
                "alias_name": null,
                "gene_symbol": "CNGA3",
                "hgnc_symbol": "CNGA3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:98962618-99015064",
                            "ensembl_id": "ENSG00000144191"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "2:98346155-98398601",
                            "ensembl_id": "ENSG00000144191"
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                    }
                },
                "hgnc_date_symbol_changed": "1994-12-20"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Achromatopsia",
                "Achromatopsia-2, 216900",
                "Eye Disorders",
                "Achromatopsia, Cone, and Cone-rod Dystrophy"
            ],
            "transcript": null,
            "entity_name": "CNGA3",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "RCNC2",
                    "RCNCb",
                    "GARP",
                    "GAR1",
                    "CNGB1B",
                    "RP45"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2151",
                "gene_name": "cyclic nucleotide gated channel beta 1",
                "omim_gene": [
                    "600724"
                ],
                "alias_name": [
                    "glutamic acid-rich protein"
                ],
                "gene_symbol": "CNGB1",
                "hgnc_symbol": "CNGB1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:57917503-58005020",
                            "ensembl_id": "ENSG00000070729"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "16:57882340-57971116",
                            "ensembl_id": "ENSG00000070729"
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                    }
                },
                "hgnc_date_symbol_changed": "1994-12-20"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Retinitis pigmentosa 45, RP45 (AR)",
                "Eye Disorders",
                "Retinitis pigmentosa",
                "Retinitis Pigmentosa, Recessive",
                "Retinitis pigmentosa 45, 613767"
            ],
            "transcript": null,
            "entity_name": "CNGB1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "gene-therapy-trial"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2153",
                "gene_name": "cyclic nucleotide gated channel beta 3",
                "omim_gene": [
                    "605080"
                ],
                "alias_name": null,
                "gene_symbol": "CNGB3",
                "hgnc_symbol": "CNGB3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                    "GRch38": {
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                            "ensembl_id": "ENSG00000170289"
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                },
                "hgnc_date_symbol_changed": "2000-07-12"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Achromatopsia",
                "Macular degeneration, juvenile",
                "Achromatopsia-3, 262300",
                "Macular degeneration, juvenile, 248200 -3",
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                "Macular Dystrophy/Degeneration/Stargardt Disease",
                "Achromatopsia-3",
                "Eye Disorders",
                "Achromatopsia, Cone, and Cone-rod Dystrophy"
            ],
            "transcript": null,
            "entity_name": "CNGB3",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
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            "gene_data": {
                "alias": [
                    "KIAA1592"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:105",
                "gene_name": "cyclin and CBS domain divalent metal cation transport mediator 4",
                "omim_gene": [
                    "607805"
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                "alias_name": null,
                "gene_symbol": "CNNM4",
                "hgnc_symbol": "CNNM4",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "2:97426639-97477628",
                            "ensembl_id": "ENSG00000158158"
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                    },
                    "GRch38": {
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                            "location": "2:96760902-96811891",
                            "ensembl_id": "ENSG00000158158"
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                    }
                },
                "hgnc_date_symbol_changed": "1999-12-07"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Achromatopsia, Cone, and Cone-rod Dystrophy",
                "Eye Disorders",
                "Jalili syndrome"
            ],
            "transcript": null,
            "entity_name": "CNNM4",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "NHS GMS",
                "BRIDGE consortium (NIHRBR-RD)"
            ],
            "gene_data": {
                "alias": [
                    "KS",
                    "KNO1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2195",
                "gene_name": "collagen type XVIII alpha 1 chain",
                "omim_gene": [
                    "120328"
                ],
                "alias_name": [
                    "endostatin"
                ],
                "gene_symbol": "COL18A1",
                "hgnc_symbol": "COL18A1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "21:46825052-46933634",
                            "ensembl_id": "ENSG00000182871"
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                    },
                    "GRch38": {
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                            "location": "21:45405137-45513720",
                            "ensembl_id": "ENSG00000182871"
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                },
                "hgnc_date_symbol_changed": "1993-05-25"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Knobloch Syndrome Type I, 267750"
            ],
            "transcript": null,
            "entity_name": "COL18A1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2202",
                "gene_name": "collagen type IV alpha 1 chain",
                "omim_gene": [
                    "120130"
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                "alias_name": null,
                "gene_symbol": "COL4A1",
                "hgnc_symbol": "COL4A1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "13:110801318-110959496",
                            "ensembl_id": "ENSG00000187498"
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                    },
                    "GRch38": {
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                            "location": "13:110148963-110307149",
                            "ensembl_id": "ENSG00000187498"
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                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Eye Disorders"
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            "transcript": null,
            "entity_name": "COL4A1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "LCA8"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2343",
                "gene_name": "crumbs 1, cell polarity complex component",
                "omim_gene": [
                    "604210"
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                "alias_name": null,
                "gene_symbol": "CRB1",
                "hgnc_symbol": "CRB1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "1:197170592-197447585",
                            "ensembl_id": "ENSG00000134376"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "1:197268204-197478455",
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                },
                "hgnc_date_symbol_changed": "1999-06-02"
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            "penetrance": "Complete",
            "phenotypes": [
                "Leber Congenital Amaurosis",
                "Retinitis pigmentosa-12, autosomal recessive, 600105Leber congenital amaurosis 8, 613835Pigmented paravenous chorioretinal atrophy, 172870",
                "Eye Disorders",
                "Retinitis pigmentosa",
                "Retinitis Pigmentosa, Recessive",
                "Retinitis pigmentosa-12, autosomal recessive, 600105"
            ],
            "transcript": null,
            "entity_name": "CRB1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "CRD",
                    "LCA7",
                    "OTX3"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2383",
                "gene_name": "cone-rod homeobox",
                "omim_gene": [
                    "602225"
                ],
                "alias_name": [
                    "orthodenticle homeobox 3"
                ],
                "gene_symbol": "CRX",
                "hgnc_symbol": "CRX",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:48322703-48346587",
                            "ensembl_id": "ENSG00000105392"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "19:47819779-47843330",
                            "ensembl_id": "ENSG00000105392"
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                    }
                },
                "hgnc_date_symbol_changed": "1998-03-25"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Cone-rod retinal dystrophy -2",
                "Leber congenital  amaurosis 7",
                "Leber Congenital Amaurosis",
                "Cone-rod retinal dystrophy-2, 120970",
                "Leber congenital amaurosis 7, 613829",
                "CRX-RELATED LEBER CONGENITAL AMAUROSIS LEBER CONGENITAL AMAUROSIS 7",
                "Eye Disorders",
                "Retinitis Pigmentosa, Dominant",
                "Retinitis pigmentosa"
            ],
            "transcript": null,
            "entity_name": "CRX",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "FLJ22490",
                    "CSPP",
                    "JBTS21"
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                "biotype": "protein_coding",
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        {
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                "Retinitis pigmentosa"
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                "Retinitis pigmentosa 59, 613861"
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                "Eligibility statement prior genetic testing",
                "Expert Review Green"
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                "hgnc_symbol": "EFEMP1",
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            "entity_name": "EFEMP1",
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                "Expert Review Green"
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                "hgnc_id": "HGNC:4394",
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                "ensembl_genes": {
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                "Expert Review Green"
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                "Mucolipidosis III gamma"
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                "Expert Review Green"
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                "Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565"
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        {
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                "Expert Review Green"
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                    "mGlu6",
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                "gene_name": "glutamate metabotropic receptor 6",
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        {
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                "Expert Review Green"
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                "Retinitis pigmentosa 48, 613827"
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                "hgnc_symbol": "IFT140",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:1560428-1662111",
                            "ensembl_id": "ENSG00000187535"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:1510427-1612110",
                            "ensembl_id": "ENSG00000187535"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-11-02"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Genetic Retinal Degeneration Conditions"
            ],
            "transcript": null,
            "entity_name": "IFT140",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "NHS GMS"
            ],
            "gene_data": {
                "alias": [
                    "IKK-gamma",
                    "NEMO",
                    "Fip3p",
                    "FIP-3",
                    "FIP3",
                    "ZC2HC9"
                ],
                "biotype": null,
                "hgnc_id": "HGNC:5961",
                "gene_name": "inhibitor of nuclear factor kappa B kinase subunit gamma",
                "omim_gene": [
                    "300248"
                ],
                "alias_name": null,
                "gene_symbol": "IKBKG",
                "hgnc_symbol": "IKBKG",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:153769414-153796782",
                            "ensembl_id": "ENSG00000073009"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:154541199-154565046",
                            "ensembl_id": "ENSG00000269335"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-09-30"
            },
            "penetrance": null,
            "phenotypes": [
                "Incontinentia pigmenti, 308300"
            ],
            "transcript": null,
            "entity_name": "IKBKG",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "sWSS2608",
                    "LCA11"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6052",
                "gene_name": "inosine monophosphate dehydrogenase 1",
                "omim_gene": [
                    "146690"
                ],
                "alias_name": null,
                "gene_symbol": "IMPDH1",
                "hgnc_symbol": "IMPDH1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:128032331-128050306",
                            "ensembl_id": "ENSG00000106348"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:128392277-128410252",
                            "ensembl_id": "ENSG00000106348"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-12-08"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Leber congenital  amaurosis 11",
                "Retinitis  pigmentosa 10",
                "Retinitis pigmentosa 10, 180105",
                "Leber Congenital Amaurosis",
                "Leber congenital amaurosis 11",
                "Eye Disorders",
                "Retinitis Pigmentosa, Dominant",
                "Retinitis pigmentosa"
            ],
            "transcript": null,
            "entity_name": "IMPDH1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "IPM150",
                    "GP147"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6055",
                "gene_name": "interphotoreceptor matrix proteoglycan 1",
                "omim_gene": [
                    "602870"
                ],
                "alias_name": null,
                "gene_symbol": "IMPG1",
                "hgnc_symbol": "IMPG1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:76630832-76782395",
                            "ensembl_id": "ENSG00000112706"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:75921115-76072678",
                            "ensembl_id": "ENSG00000112706"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-08-28"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Macular dystrophy, vitelliform, 4"
            ],
            "transcript": null,
            "entity_name": "IMPG1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "IPM200",
                    "RP56"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:18362",
                "gene_name": "interphotoreceptor matrix proteoglycan 2",
                "omim_gene": [
                    "607056"
                ],
                "alias_name": null,
                "gene_symbol": "IMPG2",
                "hgnc_symbol": "IMPG2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:100941390-101039404",
                            "ensembl_id": "ENSG00000081148"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:101222546-101320560",
                            "ensembl_id": "ENSG00000081148"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2002-03-15"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Maculopathy,  IMPG2 - related",
                "Retinitis  pigmentosa 56",
                "Eye Disorders",
                "Retinitis pigmentosa",
                "Retinitis pigmentosa 56, 613581",
                "Retinitis Pigmentosa, Recessive"
            ],
            "transcript": null,
            "entity_name": "IMPG2",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "PPI5PIV",
                    "CORS1",
                    "pharbin"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:21474",
                "gene_name": "inositol polyphosphate-5-phosphatase E",
                "omim_gene": [
                    "613037"
                ],
                "alias_name": null,
                "gene_symbol": "INPP5E",
                "hgnc_symbol": "INPP5E",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:139323071-139334274",
                            "ensembl_id": "ENSG00000148384"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:136428619-136439823",
                            "ensembl_id": "ENSG00000148384"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-06-13"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Genetic Retinal Degeneration Conditions"
            ],
            "transcript": null,
            "entity_name": "INPP5E",
            "entity_type": "gene",
            "publications": [
                "Review of the literature from Stephanie Barton (Manchester) - L Bielas et al (2009) Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. Nat. Genet. 41:1032-1036",
                "Wang et al (2015) Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.Invest Ophthalmol Vis Sci.  Jun",
                "56(6):3642-55",
                "Travaglini et al (2013) Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. Eur J Hum Genet.  Oct",
                "21(10):1074-8- Several other papers on HGMD."
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "KIAA0036",
                    "NPHP5",
                    "SLSN5"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:28949",
                "gene_name": "IQ motif containing B1",
                "omim_gene": [
                    "609237"
                ],
                "alias_name": [
                    "nephrocystin-5"
                ],
                "gene_symbol": "IQCB1",
                "hgnc_symbol": "IQCB1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:121488610-121553926",
                            "ensembl_id": "ENSG00000173226"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:121769763-121835079",
                            "ensembl_id": "ENSG00000173226"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-03-05"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Senior-Loken syndrome 5 (nephronophthisis and Leber congenital amaurosis)",
                "Leber congenital amaurosis",
                "Eye Disorders"
            ],
            "transcript": null,
            "entity_name": "IQCB1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "Kir7.1",
                    "Kir1.4",
                    "LCA16"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6259",
                "gene_name": "potassium voltage-gated channel subfamily J member 13",
                "omim_gene": [
                    "603208"
                ],
                "alias_name": null,
                "gene_symbol": "KCNJ13",
                "hgnc_symbol": "KCNJ13",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:233631174-233641278",
                            "ensembl_id": "ENSG00000115474"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:232766464-232776568",
                            "ensembl_id": "ENSG00000115474"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-08-10"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Leber congenital amaurosis 16, 614186",
                "Leber Congenital Amaurosis",
                "Eye Disorders",
                "Snowflake vitreoretinal degeneration, 193230"
            ],
            "transcript": null,
            "entity_name": "KCNJ13",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "Kv8.2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:19698",
                "gene_name": "potassium voltage-gated channel modifier subfamily V member 2",
                "omim_gene": [
                    "607604"
                ],
                "alias_name": null,
                "gene_symbol": "KCNV2",
                "hgnc_symbol": "KCNV2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:2717502-2730037",
                            "ensembl_id": "ENSG00000168263"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:2717502-2730037",
                            "ensembl_id": "ENSG00000168263"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2002-11-20"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Retinal Cone Dystrophy",
                "Eye Disorders",
                "Achromatopsia, Cone, and Cone-rod Dystrophy"
            ],
            "transcript": null,
            "entity_name": "KCNV2",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:22219",
                "gene_name": "KIAA1549",
                "omim_gene": [
                    "613344"
                ],
                "alias_name": null,
                "gene_symbol": "KIAA1549",
                "hgnc_symbol": "KIAA1549",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:138516126-138666064",
                            "ensembl_id": "ENSG00000122778"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:138831381-138981318",
                            "ensembl_id": "ENSG00000122778"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2008-04-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "No OMIM phenotype"
            ],
            "transcript": null,
            "entity_name": "KIAA1549",
            "entity_type": "gene",
            "publications": [
                "23105016",
                "24938718",
                "30120214"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "Eg5",
                    "HKSP",
                    "TRIP5"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6388",
                "gene_name": "kinesin family member 11",
                "omim_gene": [
                    "148760"
                ],
                "alias_name": null,
                "gene_symbol": "KIF11",
                "hgnc_symbol": "KIF11",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:94353043-94415150",
                            "ensembl_id": "ENSG00000138160"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:92593286-92655395",
                            "ensembl_id": "ENSG00000138160"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-01-10"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Genetic Retinal Degeneration Conditions"
            ],
            "transcript": null,
            "entity_name": "KIF11",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "NHS GMS"
            ],
            "gene_data": {
                "alias": [
                    "HT013"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:15865",
                "gene_name": "kizuna centrosomal protein",
                "omim_gene": [
                    "615757"
                ],
                "alias_name": null,
                "gene_symbol": "KIZ",
                "hgnc_symbol": "KIZ",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "20:21106624-21227260",
                            "ensembl_id": "ENSG00000088970"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "20:21125983-21246622",
                            "ensembl_id": "ENSG00000088970"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2014-02-17"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Retinitis pigmentosa 69, 615780",
                "HP:0000556",
                "HP:0000510"
            ],
            "transcript": null,
            "entity_name": "KIZ",
            "entity_type": "gene",
            "publications": [
                "31556760",
                "29057815",
                "28837078",
                "24680887"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "KLHL6",
                    "SBBI26",
                    "RP42"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:15646",
                "gene_name": "kelch like family member 7",
                "omim_gene": [
                    "611119"
                ],
                "alias_name": [
                    "retinitis pigmentosa 42"
                ],
                "gene_symbol": "KLHL7",
                "hgnc_symbol": "KLHL7",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:23145353-23217533",
                            "ensembl_id": "ENSG00000122550"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:23105758-23177914",
                            "ensembl_id": "ENSG00000122550"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2002-05-21"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Retinitis  pigmentosa 42",
                "Eye Disorders",
                "Retinitis Pigmentosa, Dominant",
                "Retinitis pigmentosa",
                "Retinitis pigmentosa 42, 612943"
            ],
            "transcript": null,
            "entity_name": "KLHL7",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:31923",
                "gene_name": "LCA5, lebercilin",
                "omim_gene": [
                    "611408"
                ],
                "alias_name": null,
                "gene_symbol": "LCA5",
                "hgnc_symbol": "LCA5",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:80194708-80247175",
                            "ensembl_id": "ENSG00000135338"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:79484991-79537458",
                            "ensembl_id": "ENSG00000135338"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-02-23"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Leber congenital  amaurosis 5",
                "Leber Congenital Amaurosis",
                "Leber congenital amaurosis 5, 604537",
                "Eye Disorders",
                "Leber congenital amaurosis 5"
            ],
            "transcript": null,
            "entity_name": "LCA5",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "LCA14"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6685",
                "gene_name": "lecithin retinol acyltransferase",
                "omim_gene": [
                    "604863"
                ],
                "alias_name": [
                    "phosphatidylcholine--retinol O-acyltransferase"
                ],
                "gene_symbol": "LRAT",
                "hgnc_symbol": "LRAT",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:155548097-155674270",
                            "ensembl_id": "ENSG00000121207"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:154626945-154753118",
                            "ensembl_id": "ENSG00000121207"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-02-16"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Leber congenital  amaurosis 14",
                "Retinal dystrophy,  early - onset severe",
                "Retinitis  pigmentosa,  juvenile",
                "Leber Congenital Amaurosis",
                "Retinal dystrophy, early-onset severe, 613341",
                "Retinitis pigmentosa",
                "Retinitis Pigmentosa, Recessive",
                "Eye Disorders"
            ],
            "transcript": null,
            "entity_name": "LRAT",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "FLJ44691",
                    "FIGLER4",
                    "CSNB1F"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:24783",
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                "Congenital Stationary Night Blindness, Recessive",
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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        },
        {
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                "Expert Review Green",
                "BRIDGE consortium (NIHRBR-RD)"
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                "alias": [
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                "biotype": "protein_coding",
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                "omim_gene": [
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                },
                "hgnc_date_symbol_changed": "1994-05-04"
            },
            "penetrance": "Complete",
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                "Donnai-Barrow syndrome 222448"
            ],
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            "entity_name": "LRP2",
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                "25682901",
                "29388841",
                "17632512"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
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                    "HBM",
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                    "EVR4"
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                "biotype": "protein_coding",
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                "omim_gene": [
                    "603506"
                ],
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                "gene_symbol": "LRP5",
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                            "ensembl_id": "ENSG00000162337"
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                            "ensembl_id": "ENSG00000162337"
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                "hgnc_date_symbol_changed": "1998-04-07"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Eye Disorders",
                "Exudative vitreoretinopathy 4"
            ],
            "transcript": null,
            "entity_name": "LRP5",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
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                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6741",
                "gene_name": "leucine zipper transcription factor like 1",
                "omim_gene": [
                    "606568"
                ],
                "alias_name": null,
                "gene_symbol": "LZTFL1",
                "hgnc_symbol": "LZTFL1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:45864808-45957534",
                            "ensembl_id": "ENSG00000163818"
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                    },
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                            "ensembl_id": "ENSG00000163818"
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                },
                "hgnc_date_symbol_changed": "2000-06-16"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Eye Disorders",
                "Bardet-Biedl syndrome 17"
            ],
            "transcript": null,
            "entity_name": "LZTFL1",
            "entity_type": "gene",
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "dJ417M14.2",
                    "RP62"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6816",
                "gene_name": "male germ cell associated kinase",
                "omim_gene": [
                    "154235"
                ],
                "alias_name": null,
                "gene_symbol": "MAK",
                "hgnc_symbol": "MAK",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:10762956-10838764",
                            "ensembl_id": "ENSG00000111837"
                        }
                    },
                    "GRch38": {
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                            "location": "6:10762723-10838555",
                            "ensembl_id": "ENSG00000111837"
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                    }
                },
                "hgnc_date_symbol_changed": "1994-02-18"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Eye Disorders",
                "Retinitis pigmentosa 62, 614181",
                "Retinitis pigmentosa",
                "Retinitis Pigmentosa, Recessive"
            ],
            "transcript": null,
            "entity_name": "MAK",
            "entity_type": "gene",
            "publications": [
                "PMID: 26894652",
                "25385675",
                "25255364",
                "22110072",
                "21835304",
                "21825139",
                "21148103"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "mer",
                    "RP38",
                    "c-Eyk",
                    "Tyro12"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7027",
                "gene_name": "MER proto-oncogene, tyrosine kinase",
                "omim_gene": [
                    "604705"
                ],
                "alias_name": null,
                "gene_symbol": "MERTK",
                "hgnc_symbol": "MERTK",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:112656056-112787138",
                            "ensembl_id": "ENSG00000153208"
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                    },
                    "GRch38": {
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                            "location": "2:111898479-112029561",
                            "ensembl_id": "ENSG00000153208"
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                    }
                },
                "hgnc_date_symbol_changed": "1998-11-30"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Retinitis  pigmentosa 38",
                "childhood onset rod-cone dystrophy with early macular atrophy",
                "Leber congenital amaurosis",
                "Retinitis pigmentosa 38",
                "Eye Disorders",
                "Retinitis pigmentosa",
                "Retinitis Pigmentosa, Recessive",
                "Retinitis pigmentosa 38, 613862"
            ],
            "transcript": null,
            "entity_name": "MERTK",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "FLJ30570",
                    "rd6",
                    "NNO2",
                    "C1QTNF5"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:18121",
                "gene_name": "membrane frizzled-related protein",
                "omim_gene": [
                    "606227"
                ],
                "alias_name": [
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                    "C1q and TNF related 5"
                ],
                "gene_symbol": "MFRP",
                "hgnc_symbol": "MFRP",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:119209652-119217383",
                            "ensembl_id": "ENSG00000235718"
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                    },
                    "GRch38": {
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                            "ensembl_id": "ENSG00000235718"
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                },
                "hgnc_date_symbol_changed": "2002-02-25"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Eye Disorders"
            ],
            "transcript": null,
            "entity_name": "MFRP",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
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                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:28486",
                "gene_name": "major facilitator superfamily domain containing 8",
                "omim_gene": [
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                ],
                "alias_name": null,
                "gene_symbol": "MFSD8",
                "hgnc_symbol": "MFSD8",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "4:128838960-128887150",
                            "ensembl_id": "ENSG00000164073"
                        }
                    },
                    "GRch38": {
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                            "ensembl_id": "ENSG00000164073"
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                    }
                },
                "hgnc_date_symbol_changed": "2007-02-19"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Ceroid lipofuscinosis, neuronal, 7, 610951",
                "Macular dystrophy with central cone involvement, 616170",
                "Eye Disorders"
            ],
            "transcript": null,
            "entity_name": "MFSD8",
            "entity_type": "gene",
            "publications": [
                "28586915",
                "25227500"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7108",
                "gene_name": "McKusick-Kaufman syndrome",
                "omim_gene": [
                    "604896"
                ],
                "alias_name": null,
                "gene_symbol": "MKKS",
                "hgnc_symbol": "MKKS",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "20:10381657-10414870",
                            "ensembl_id": "ENSG00000125863"
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                    },
                    "GRch38": {
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                            "ensembl_id": "ENSG00000125863"
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                },
                "hgnc_date_symbol_changed": "1998-09-08"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Eye Disorders"
            ],
            "transcript": null,
            "entity_name": "MKKS",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "FLJ20345",
                    "POC12",
                    "BBS13"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7121",
                "gene_name": "Meckel syndrome, type 1",
                "omim_gene": [
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                ],
                "alias_name": [
                    "POC12 centriolar protein homolog (Chlamydomonas)"
                ],
                "gene_symbol": "MKS1",
                "hgnc_symbol": "MKS1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:56282803-56296966",
                            "ensembl_id": "ENSG00000011143"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:58205437-58219605",
                            "ensembl_id": "ENSG00000011143"
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                },
                "hgnc_date_symbol_changed": "1995-11-07"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Eye Disorders"
            ],
            "transcript": null,
            "entity_name": "MKS1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "NSRD2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7606",
                "gene_name": "myosin VIIA",
                "omim_gene": [
                    "276903"
                ],
                "alias_name": null,
                "gene_symbol": "MYO7A",
                "hgnc_symbol": "MYO7A",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:76839310-76926284",
                            "ensembl_id": "ENSG00000137474"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:77128264-77215239",
                            "ensembl_id": "ENSG00000137474"
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                },
                "hgnc_date_symbol_changed": "1992-06-08"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Eye Disorders"
            ],
            "transcript": null,
            "entity_name": "MYO7A",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "norrin"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7678",
                "gene_name": "NDP, norrin cystine knot growth factor",
                "omim_gene": [
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                ],
                "alias_name": null,
                "gene_symbol": "NDP",
                "hgnc_symbol": "NDP",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:43808022-43832750",
                            "ensembl_id": "ENSG00000124479"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:43948776-43973504",
                            "ensembl_id": "ENSG00000124479"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Eye Disorders"
            ],
            "transcript": null,
            "entity_name": "NDP",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "NMNAT",
                    "PNAT1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17877",
                "gene_name": "nicotinamide nucleotide adenylyltransferase 1",
                "omim_gene": [
                    "608700"
                ],
                "alias_name": null,
                "gene_symbol": "NMNAT1",
                "hgnc_symbol": "NMNAT1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:10003486-10045559",
                            "ensembl_id": "ENSG00000173614"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:9943428-9985501",
                            "ensembl_id": "ENSG00000173614"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-05-02"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Leber congenital amaurosis 9, 608553"
            ],
            "transcript": null,
            "entity_name": "NMNAT1",
            "entity_type": "gene",
            "publications": [
                "28369829"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "JBTS4",
                    "SLSN1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7905",
                "gene_name": "nephrocystin 1",
                "omim_gene": [
                    "607100"
                ],
                "alias_name": null,
                "gene_symbol": "NPHP1",
                "hgnc_symbol": "NPHP1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:110879888-110962643",
                            "ensembl_id": "ENSG00000144061"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:110122311-110205066",
                            "ensembl_id": "ENSG00000144061"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-08-08"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Eye Disorders"
            ],
            "transcript": null,
            "entity_name": "NPHP1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "NPH3",
                    "KIAA2000",
                    "FLJ30691",
                    "FLJ36696",
                    "MKS7",
                    "SLSN3",
                    "CFAP31"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7907",
                "gene_name": "nephrocystin 3",
                "omim_gene": [
                    "608002"
                ],
                "alias_name": [
                    "Meckel syndrome, type 7",
                    "cilia and flagella associated protein 31"
                ],
                "gene_symbol": "NPHP3",
                "hgnc_symbol": "NPHP3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:132276986-132441303",
                            "ensembl_id": "ENSG00000113971"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:132680609-132722442",
                            "ensembl_id": "ENSG00000113971"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2000-01-20"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Eye Disorders"
            ],
            "transcript": null,
            "entity_name": "NPHP3",
            "entity_type": "gene",
            "publications": [
                "Publications in OMIM",
                "homozygous and compound heterozygous mutations in patients with Meckel syndrome. Multiple publications on HGMD of both missense and loss of function mutations in patients with nephronophthisis. Paper by Olbrich et al 2003 Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.Nat Genet. 2003 Aug",
                "34(4):455-9. Omran et al (2002) Identification of a gene locus for Senior-Loken syndrome in the region of the nephronophthisis type 3 gene.J. Am. Soc. Nephrol. 13: 75-79",
                "NPHP3 mutations have been linked to Senior-Loken syndrome, which involves cystic kidney disease (nephronophthisis) and retinitis pigmentosa or Leber congenital amaurosis."
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "SLSN4",
                    "KIAA0673",
                    "POC10"
                ],
                "biotype": "protein_coding",
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                "gene_name": "nephrocystin 4",
                "omim_gene": [
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                "alias_name": [
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                "gene_symbol": "NPHP4",
                "hgnc_symbol": "NPHP4",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "1:5922871-6052533",
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                    },
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                "hgnc_date_symbol_changed": "2002-10-03"
            },
            "penetrance": "Complete",
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            "transcript": null,
            "entity_name": "NPHP4",
            "entity_type": "gene",
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        {
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                "Expert Review Green"
            ],
            "gene_data": {
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                    "rd7",
                    "RP37"
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                "biotype": null,
                "hgnc_id": "HGNC:7974",
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                "alias_name": null,
                "gene_symbol": "NR2E3",
                "hgnc_symbol": "NR2E3",
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                "hgnc_date_symbol_changed": "1999-09-16"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Enhanced S - cone syndrome (AR)",
                "Retinitis  pigmentosa 37 (AD and AR)",
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                "Retinitis pigmentosa",
                "Retinitis Pigmentosa, Recessive",
                "Enhanced S-cone syndrome, 268100"
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            "transcript": null,
            "entity_name": "NR2E3",
            "entity_type": "gene",
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            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
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        {
            "tags": [],
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                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
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                "hgnc_id": "HGNC:8002",
                "gene_name": "neural retina leucine zipper",
                "omim_gene": [
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                "alias_name": null,
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                "hgnc_symbol": "NRL",
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                },
                "hgnc_date_symbol_changed": "1997-05-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Retinal  degeneration,  autosomal  recessive, clumped pigment type (AR)",
                "Retinitis  pigmentosa 27 (AD)",
                "Eye Disorders",
                "Retinitis Pigmentosa, Dominant",
                "Retinitis pigmentosa",
                "Retinitis pigmentosa 27, 613750"
            ],
            "transcript": null,
            "entity_name": "NRL",
            "entity_type": "gene",
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            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
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                "Expert Review Green"
            ],
            "gene_data": {
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                    "CSNB1A"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8082",
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                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "NYX",
                "hgnc_symbol": "NYX",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "ensembl_id": "ENSG00000188937"
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                    },
                    "GRch38": {
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                },
                "hgnc_date_symbol_changed": "2000-07-31"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Congenital Stationary Night Blindness",
                "Congenital Stationary Night Blindness, X-linked",
                "Night blindness, congenital stationary (complete), 1A, X-linked, 310500"
            ],
            "transcript": null,
            "entity_name": "NYX",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
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                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8091",
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                "omim_gene": [
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                "alias_name": [
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                    "gyrate atrophy"
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                "gene_symbol": "OAT",
                "hgnc_symbol": "OAT",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "10:126085872-126107545",
                            "ensembl_id": "ENSG00000065154"
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                    },
                    "GRch38": {
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                            "location": "10:124397303-124418976",
                            "ensembl_id": "ENSG00000065154"
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                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Eye Disorders"
            ],
            "transcript": null,
            "entity_name": "OAT",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "71-7A",
                    "JBTS10"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2567",
                "gene_name": "OFD1, centriole and centriolar satellite protein",
                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "OFD1",
                "hgnc_symbol": "OFD1",
                "hgnc_release": "2017-11-03T00:00:00",
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                "hgnc_date_symbol_changed": "1998-10-01"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Joubert syndrome  10",
                "Eye Disorders",
                "?Retinitis pigmentosa 23, 300424Joubert syndrome 10, 300804Orofaciodigital syndrome I, 311200Simpson-Golabi-Behmel syndrome, type 2, 300209",
                "Retinitis pigmentosa"
            ],
            "transcript": null,
            "entity_name": "OFD1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "NHS GMS"
            ],
            "gene_data": {
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                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9936",
                "gene_name": "opsin 1, long wave sensitive",
                "omim_gene": [
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                "alias_name": [
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                "gene_symbol": "OPN1LW",
                "hgnc_symbol": "OPN1LW",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "X:153409698-153424507",
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                    },
                    "GRch38": {
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                            "ensembl_id": "ENSG00000102076"
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                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Blue cone monochromacy, 303700"
            ],
            "transcript": null,
            "entity_name": "OPN1LW",
            "entity_type": "gene",
            "publications": [
                "8213841",
                "8666378",
                "15094734",
                "8792812"
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            "confidence_level": "3",
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "NHS GMS"
            ],
            "gene_data": {
                "alias": [
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                    "COD5"
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                "biotype": null,
                "hgnc_id": "HGNC:4206",
                "gene_name": "opsin 1, medium wave sensitive",
                "omim_gene": [
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                "alias_name": [
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                ],
                "gene_symbol": "OPN1MW",
                "hgnc_symbol": "OPN1MW",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "X:153448107-153461633",
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                    },
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                            "ensembl_id": "ENSG00000268221"
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                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Blue cone monochromacy, 303700"
            ],
            "transcript": null,
            "entity_name": "OPN1MW",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8522",
                "gene_name": "orthodenticle homeobox 2",
                "omim_gene": [
                    "600037"
                ],
                "alias_name": null,
                "gene_symbol": "OTX2",
                "hgnc_symbol": "OTX2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "14:57267425-57277197",
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                            "ensembl_id": "ENSG00000165588"
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            "penetrance": "Complete",
            "phenotypes": [
                "Microphthalmia, syndromic 5, 610125",
                "early onset retinal dystrophy",
                "autosomal-dominant pattern dystrophy of the retinal pigment epithelium",
                "Retinal Dystrophy",
                "Eye Disorders"
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            "transcript": null,
            "entity_name": "OTX2",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Expert list"
            ],
            "gene_data": {
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                    "HSS",
                    "FLJ11729",
                    "PKAN",
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:15894",
                "gene_name": "pantothenate kinase 2",
                "omim_gene": [
                    "606157"
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                "alias_name": [
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                "gene_symbol": "PANK2",
                "hgnc_symbol": "PANK2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "20:3869486-3907605",
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                    },
                    "GRch38": {
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                            "location": "20:3888839-3929882",
                            "ensembl_id": "ENSG00000125779"
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                },
                "hgnc_date_symbol_changed": "2002-09-06"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "HARP syndrome",
                "Neurodegeneration with brain iron accumulation 1"
            ],
            "transcript": null,
            "entity_name": "PANK2",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "CDHR15"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14674",
                "gene_name": "protocadherin related 15",
                "omim_gene": [
                    "605514"
                ],
                "alias_name": [
                    "cadherin-related family member 15"
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                "gene_symbol": "PCDH15",
                "hgnc_symbol": "PCDH15",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:55562531-57387702",
                            "ensembl_id": "ENSG00000150275"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "10:53802771-55627942",
                            "ensembl_id": "ENSG00000150275"
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                },
                "hgnc_date_symbol_changed": "2001-02-27"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Usher syndrome Type 1F",
                "non-syndromic deafness",
                "Usher syndrome, type 1D/F digenic",
                "Eye Disorders"
            ],
            "transcript": null,
            "entity_name": "PCDH15",
            "entity_type": "gene",
            "publications": [
                "Several mutations reported on HGMD in patients with Usher syndrome Type 1 and also non-syndromic deafness."
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "CT",
                    "CTPCT"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8754",
                "gene_name": "phosphate cytidylyltransferase 1, choline, alpha",
                "omim_gene": [
                    "123695"
                ],
                "alias_name": [
                    "phosphate cytidylyltransferase 1, choline, alpha isoform"
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                "gene_symbol": "PCYT1A",
                "hgnc_symbol": "PCYT1A",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:195941093-196014828",
                            "ensembl_id": "ENSG00000161217"
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                    "GRch38": {
                        "90": {
                            "location": "3:196214222-196287957",
                            "ensembl_id": "ENSG00000161217"
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                },
                "hgnc_date_symbol_changed": "1999-05-05"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940"
            ],
            "transcript": null,
            "entity_name": "PCYT1A",
            "entity_type": "gene",
            "publications": [
                "Several publications on HGMD in patients with Spondylometaphyseal dysplasia with cone-rod dystrophy"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "RP43"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8785",
                "gene_name": "phosphodiesterase 6A",
                "omim_gene": [
                    "180071"
                ],
                "alias_name": null,
                "gene_symbol": "PDE6A",
                "hgnc_symbol": "PDE6A",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:149237519-149324356",
                            "ensembl_id": "ENSG00000132915"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "5:149857955-149944793",
                            "ensembl_id": "ENSG00000132915"
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                    }
                },
                "hgnc_date_symbol_changed": "1990-03-20"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Retinitis  pigmentosa 43",
                "Eye Disorders",
                "Retinitis pigmentosa",
                "Retinitis Pigmentosa, Recessive",
                "Retinitis pigmentosa 43, 613810"
            ],
            "transcript": null,
            "entity_name": "PDE6A",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "CSNB3",
                    "rd1",
                    "RP40",
                    "CSNBAD2"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8786",
                "gene_name": "phosphodiesterase 6B",
                "omim_gene": [
                    "180072"
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                "alias_name": [
                    "congenital stationary night blindness 3, autosomal dominant"
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                "gene_symbol": "PDE6B",
                "hgnc_symbol": "PDE6B",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "4:619373-664571",
                            "ensembl_id": "ENSG00000133256"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "4:625584-670782",
                            "ensembl_id": "ENSG00000133256"
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                },
                "hgnc_date_symbol_changed": "1991-01-15"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Night blindness,  congenital  stationary,  autosomal  dominant 2",
                "Retinitis  pigmentosa 40",
                "Congenital Stationary Night Blindness, Dominant",
                "Congenital Stationary Night Blindness",
                "Night blindness, congenital stationary, autosomal dominant 2, 163500",
                "Retinitis pigmentosa",
                "Retinitis Pigmentosa, Recessive"
            ],
            "transcript": null,
            "entity_name": "PDE6B",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
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                    "ACHM5",
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8787",
                "gene_name": "phosphodiesterase 6C",
                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "PDE6C",
                "hgnc_symbol": "PDE6C",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "ensembl_id": "ENSG00000095464"
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                            "ensembl_id": "ENSG00000095464"
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                "hgnc_date_symbol_changed": "1995-07-13"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Achromatopsia",
                "Cone dystrophy 4",
                "Eye Disorders",
                "Cone-Rod Dystrophy, Recessive",
                "Achromatopsia, Cone, and Cone-rod Dystrophy"
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            "transcript": null,
            "entity_name": "PDE6C",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
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                "Eye Disorders",
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                "Retinitis pigmentosa 13, 600059"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Eligibility statement prior genetic testing",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "TSPAN22",
                    "rd2",
                    "CACD2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9942",
                "gene_name": "peripherin 2",
                "omim_gene": [
                    "179605"
                ],
                "alias_name": null,
                "gene_symbol": "PRPH2",
                "hgnc_symbol": "PRPH2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:42664340-42690312",
                            "ensembl_id": "ENSG00000112619"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:42696600-42722574",
                            "ensembl_id": "ENSG00000112619"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-11-23"
            },
            "penetrance": "Complete",
            "phenotypes": [],
            "transcript": null,
            "entity_name": "PRPH2",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "CMTX5",
                    "DFNX1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9462",
                "gene_name": "phosphoribosyl pyrophosphate synthetase 1",
                "omim_gene": [
                    "311850"
                ],
                "alias_name": [
                    "PRS I",
                    "ribose-phosphate diphosphokinase 1"
                ],
                "gene_symbol": "PRPS1",
                "hgnc_symbol": "PRPS1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:106871737-106894256",
                            "ensembl_id": "ENSG00000147224"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:107628424-107651026",
                            "ensembl_id": "ENSG00000147224"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "penetrance": null,
            "phenotypes": [
                "retinal dystrophy"
            ],
            "transcript": null,
            "entity_name": "PRPS1",
            "entity_type": "gene",
            "publications": [
                "28967191"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
            "mode_of_pathogenicity": null
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9768",
                "gene_name": "RAB28, member RAS oncogene family",
                "omim_gene": [
                    "612994"
                ],
                "alias_name": null,
                "gene_symbol": "RAB28",
                "hgnc_symbol": "RAB28",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:13362978-13485989",
                            "ensembl_id": "ENSG00000157869"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:13361354-13484365",
                            "ensembl_id": "ENSG00000157869"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-03-24"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Cone-rod dystrophy 18, 615374"
            ],
            "transcript": null,
            "entity_name": "RAB28",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "MGC15631",
                    "ARMD6",
                    "CORD11"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:18286",
                "gene_name": "retina and anterior neural fold homeobox 2",
                "omim_gene": [
                    "610362"
                ],
                "alias_name": null,
                "gene_symbol": "RAX2",
                "hgnc_symbol": "RAX2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:3769087-3772233",
                            "ensembl_id": "ENSG00000173976"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:3769089-3772221",
                            "ensembl_id": "ENSG00000173976"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-08-28"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Achromatopsia, Cone, and Cone-rod Dystrophy",
                "Macular Degeneration",
                "Eye Disorders",
                "Cone-Rod Dystrophy, Dominant",
                "Cone-rod dystrophy 11"
            ],
            "transcript": null,
            "entity_name": "RAX2",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "D10S64",
                    "D10S65",
                    "D10S66",
                    "RP66"
                ],
                "biotype": null,
                "hgnc_id": "HGNC:9921",
                "gene_name": "retinol binding protein 3",
                "omim_gene": [
                    "180290"
                ],
                "alias_name": [
                    "interstitial retinol-binding protein 3"
                ],
                "gene_symbol": "RBP3",
                "hgnc_symbol": "RBP3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:48381487-48390991",
                            "ensembl_id": "ENSG00000107618"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:47348371-47357875",
                            "ensembl_id": "ENSG00000265203"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Eye Disorders",
                "Retinitis Pigmentosa, Recessive",
                "Retinitis pigmentosa",
                "?Retinitis pigmentosa 66, 615233"
            ],
            "transcript": null,
            "entity_name": "RBP3",
            "entity_type": "gene",
            "publications": [
                "Review of the literature from Stephanie Barton - Arno et al (2015) Lack of Interphotoreceptor Retinoid Binding Protein Caused by Homozygous Mutation of RBP3 Is Associated With High Myopia and Retinal Dystrophy. Invest Ophthalmol Vis Sci.  Apr",
                "56(4):2358-65: Two novel homozygous nonsense mutations (c.1530T>A",
                "p.Y510* and c.3454G>T",
                "p.E1152*) in RBP3 were identified in four patients from two families. All four patients had a similar, unusual retinal dystrophy characterized by childhood onset high myopia, generalized rod and cone dysfunction, and an unremarkable fundus appearance. The FAF imaging showed multiple paracentral foci of low autofluorescence in one patient and patchy increased FAF in the region of the vascular arcades in another. The OCT showed loss of outer retinal bands over peripheral macular areas in all 4 cases",
                "Abu-Safieh et al (2013) Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. Genome Res.  Feb",
                "23(2):236-47",
                "NM_002900.2 RBP3 :c.1162C>T",
                "p.(Arg388*) identified in homozygous state in patient with sporadic RP",
                "Li et al (2013) Secretory defect and cytotoxicity: the potential disease mechanisms for the retinitis pigmentosa (RP)-associated interphotoreceptor retinoid-binding protein (IRBP). J Biol Chem.  Apr 19",
                "288(16):11395-406: Functional studies to assess pathogenicity of a missense change, D1080N, that was identified in a homozygous state in a patient with ARRP by Den Hollander et al 2009. The mutation abolished IRBP secretion and induced endoplasmic reticulum stress by forming insoluble IRBP-containing complexes via disulfide bonds. Conclude that  Loss of normal function and gain of cytotoxic function are the likely mechanisms for retinal degeneration."
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9922",
                "gene_name": "retinol binding protein 4",
                "omim_gene": [
                    "180250"
                ],
                "alias_name": null,
                "gene_symbol": "RBP4",
                "hgnc_symbol": "RBP4",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:95351444-95361501",
                            "ensembl_id": "ENSG00000138207"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:93591687-93601744",
                            "ensembl_id": "ENSG00000138207"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Achromatopsia, Cone, and Cone-rod Dystrophy",
                "Macular Dystrophy/Degeneration/Stargardt Disease",
                "Congenital Stationary Night Blindness",
                "Retinitis pigmentosa"
            ],
            "transcript": null,
            "entity_name": "RBP4",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "FLJ10716",
                    "CLLD7",
                    "CLLL7"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:18243",
                "gene_name": "RCC1 and BTB domain containing protein 1",
                "omim_gene": [
                    "607867"
                ],
                "alias_name": null,
                "gene_symbol": "RCBTB1",
                "hgnc_symbol": "RCBTB1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "13:50106082-50159719",
                            "ensembl_id": "ENSG00000136144"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "13:49531946-49585583",
                            "ensembl_id": "ENSG00000136144"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-05-02"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "familial exudative vitreoretinopathy",
                "Coats disease",
                "Retinal dystrophy with or without extraocular anomalies, 617175"
            ],
            "transcript": null,
            "entity_name": "RCBTB1",
            "entity_type": "gene",
            "publications": [
                "26908610",
                "27486781"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "LCA12"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:19689",
                "gene_name": "retinal degeneration 3",
                "omim_gene": [
                    "180040"
                ],
                "alias_name": null,
                "gene_symbol": "RD3",
                "hgnc_symbol": "RD3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:211649864-211666259",
                            "ensembl_id": "ENSG00000198570"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:211476522-211492917",
                            "ensembl_id": "ENSG00000198570"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-11-13"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Leber Congenital Amaurosis",
                "Leber congenital amaurosis 12, 610612",
                "Eye Disorders"
            ],
            "transcript": null,
            "entity_name": "RD3",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "FLJ30273",
                    "SDR7C2",
                    "LCA13",
                    "RP53"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:19977",
                "gene_name": "retinol dehydrogenase 12 (all-trans/9-cis/11-cis)",
                "omim_gene": [
                    "608830"
                ],
                "alias_name": [
                    "short chain dehydrogenase/reductase family 7C, member 2"
                ],
                "gene_symbol": "RDH12",
                "hgnc_symbol": "RDH12",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:68168603-68201169",
                            "ensembl_id": "ENSG00000139988"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "14:67701886-67734452",
                            "ensembl_id": "ENSG00000139988"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2002-12-11"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Leber congenital  amaurosis 13",
                "Macular Dystrophy/Degeneration/Stargardt Disease",
                "Leber congenital amaurosis 13, 612712",
                "Eye Disorders",
                "Retinitis Pigmentosa, Recessive",
                "Retinitis pigmentosa"
            ],
            "transcript": null,
            "entity_name": "RDH12",
            "entity_type": "gene",
            "publications": [
                "31505163"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "HSD17B9",
                    "SDR9C5"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9940",
                "gene_name": "retinol dehydrogenase 5",
                "omim_gene": [
                    "601617"
                ],
                "alias_name": [
                    "short chain dehydrogenase/reductase family 9C, member 5"
                ],
                "gene_symbol": "RDH5",
                "hgnc_symbol": "RDH5",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:56114151-56118489",
                            "ensembl_id": "ENSG00000135437"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:55720367-55724705",
                            "ensembl_id": "ENSG00000135437"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1996-07-19"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Achromatopsia, Cone, and Cone-rod Dystrophy",
                "Congenital Stationary Night Blindness",
                "Fundus albipunctatus, 136880",
                "Fundus albipunctatus"
            ],
            "transcript": null,
            "entity_name": "RDH5",
            "entity_type": "gene",
            "publications": [
                "21529959"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "NHS GMS",
                "RetNet",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "DP1L1",
                    "FLJ25383",
                    "Yip2f"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:30078",
                "gene_name": "receptor accessory protein 6",
                "omim_gene": [
                    "609346"
                ],
                "alias_name": [
                    "polyposis locus protein 1-like 1",
                    "deleted in polyposis 1-like 1"
                ],
                "gene_symbol": "REEP6",
                "hgnc_symbol": "REEP6",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:1491165-1497926",
                            "ensembl_id": "ENSG00000115255"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:1490747-1497927",
                            "ensembl_id": "ENSG00000115255"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-02-07"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "retinitis pigmentosa",
                "Retinitis pigmentosa 77, 617304"
            ],
            "transcript": null,
            "entity_name": "REEP6",
            "entity_type": "gene",
            "publications": [
                "30101608",
                "28475715",
                "28369466",
                "27889058",
                "24691551"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": null
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "PERRS",
                    "RGS9L",
                    "MGC26458",
                    "MGC111763"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10004",
                "gene_name": "regulator of G protein signaling 9",
                "omim_gene": [
                    "604067"
                ],
                "alias_name": [
                    "regulator of G protein signalling 9",
                    "regulator of G protein signalling 9L",
                    "regulator of G-protein signaling 9L"
                ],
                "gene_symbol": "RGS9",
                "hgnc_symbol": "RGS9",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:63133549-63223821",
                            "ensembl_id": "ENSG00000108370"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:65100812-65227703",
                            "ensembl_id": "ENSG00000108370"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-12-15"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Achromatopsia, Cone, and Cone-rod Dystrophy",
                "Eye Disorders"
            ],
            "transcript": null,
            "entity_name": "RGS9",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "OPN2",
                    "CSNBAD1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10012",
                "gene_name": "rhodopsin",
                "omim_gene": [
                    "180380"
                ],
                "alias_name": [
                    "opsin 2, rod pigment"
                ],
                "gene_symbol": "RHO",
                "hgnc_symbol": "RHO",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:129247483-129254012",
                            "ensembl_id": "ENSG00000163914"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:129528640-129535169",
                            "ensembl_id": "ENSG00000163914"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Night blindness,  congenital  stationary  autosomal  dominant 1",
                "Retinitis  pigmentosa",
                "Retinitis punctata albescens",
                "Congenital Stationary Night Blindness",
                "Retinitis pigmentosa 4, autosomal dominant or recessive, 613731",
                "Retinitis Pigmentosa, Dominant/Recessive",
                "Retinitis pigmentosa"
            ],
            "transcript": null,
            "entity_name": "RHO",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "CRALBP"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10024",
                "gene_name": "retinaldehyde binding protein 1",
                "omim_gene": [
                    "180090"
                ],
                "alias_name": null,
                "gene_symbol": "RLBP1",
                "hgnc_symbol": "RLBP1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:89753100-89764982",
                            "ensembl_id": "ENSG00000140522"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "15:89209869-89221751",
                            "ensembl_id": "ENSG00000140522"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-05-15"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Bothnia retinal  dystrophy",
                "Fundus  albipunctatus",
                "Newfoundland rod - cone dystrophy",
                "Retinitis punctata  albescens",
                "Fundus albipunctatus, 136880",
                "Fundus Albipunctatus",
                "Eye Disorders",
                "Retinitis Pigmentosa, Recessive",
                "Retinitis pigmentosa"
            ],
            "transcript": null,
            "entity_name": "RLBP1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "DCDC4A",
                    "ORP1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10263",
                "gene_name": "RP1, axonemal microtubule associated",
                "omim_gene": [
                    "603937"
                ],
                "alias_name": [
                    "doublecortin domain containing 4A",
                    "oxygen-regulated protein 1"
                ],
                "gene_symbol": "RP1",
                "hgnc_symbol": "RP1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "8:55528627-55543394",
                            "ensembl_id": "ENSG00000104237"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "8:54554361-54871720",
                            "ensembl_id": "ENSG00000104237"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Retinitis  pigmentosa 1",
                "Eye Disorders",
                "Retinitis pigmentosa 1, 180100{Hypertriglyceridemia, susceptibility to}, 145750",
                "Retinitis Pigmentosa, Dominant",
                "Retinitis pigmentosa",
                "rod-cone dystrophy"
            ],
            "transcript": null,
            "entity_name": "RP1",
            "entity_type": "gene",
            "publications": [
                "25692139",
                "8931712",
                "10391211",
                "15863674"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "DCDC4B"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:15946",
                "gene_name": "RP1 like 1",
                "omim_gene": [
                    "608581"
                ],
                "alias_name": [
                    "doublecortin domain containing 4B"
                ],
                "gene_symbol": "RP1L1",
                "hgnc_symbol": "RP1L1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "8:10463859-10569697",
                            "ensembl_id": "ENSG00000183638"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "8:10606349-10712187",
                            "ensembl_id": "ENSG00000183638"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-07-26"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Occult Macular Dystrophy",
                "Occult macular dystrophy, 613587"
            ],
            "transcript": null,
            "entity_name": "RP1L1",
            "entity_type": "gene",
            "publications": [
                "23281133",
                "20826268"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "TBCCD2",
                    "NME10",
                    "NM23-H10"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10274",
                "gene_name": "RP2, ARL3 GTPase activating protein",
                "omim_gene": [
                    "300757"
                ],
                "alias_name": null,
                "gene_symbol": "RP2",
                "hgnc_symbol": "RP2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:46696375-46741793",
                            "ensembl_id": "ENSG00000102218"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:46836940-46882358",
                            "ensembl_id": "ENSG00000102218"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Retinitis  pigmentosa 2",
                "RP2-related X-linked Retinitis Pigmentosa",
                "Eye Disorders",
                "Retinitis pigmentosa",
                "Retinitis pigmentosa 2, 312600",
                "Retinitis Pigmentosa, X-linked"
            ],
            "transcript": null,
            "entity_name": "RP2",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "PAP-1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10288",
                "gene_name": "RP9, pre-mRNA splicing factor",
                "omim_gene": [
                    "607331"
                ],
                "alias_name": [
                    "Pim-1 kinase associated protein"
                ],
                "gene_symbol": "RP9",
                "hgnc_symbol": "RP9",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:33134409-33149013",
                            "ensembl_id": "ENSG00000164610"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:33094797-33109401",
                            "ensembl_id": "ENSG00000164610"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-04-27"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Eye Disorders",
                "Retinitis Pigmentosa, Dominant",
                "Retinitis pigmentosa",
                "Retinitis pigmentosa 9, 180104"
            ],
            "transcript": null,
            "entity_name": "RP9",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "gene-therapy-trial"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "LCA2",
                    "rd12",
                    "BCO3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10294",
                "gene_name": "RPE65, retinoid isomerohydrolase",
                "omim_gene": [
                    "180069"
                ],
                "alias_name": [
                    "BCO family, member 3",
                    "retinol isomerase",
                    "all-trans-retinyl-palmitate hydrolase"
                ],
                "gene_symbol": "RPE65",
                "hgnc_symbol": "RPE65",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:68894505-68915642",
                            "ensembl_id": "ENSG00000116745"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:68428822-68449959",
                            "ensembl_id": "ENSG00000116745"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-10-04"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Leber congenital  amaurosis 2",
                "Retinitis  pigmentosa 20",
                "Leber Congenital Amaurosis",
                "Leber congenital amaurosis 2, 204100",
                "Eye Disorders",
                "Retinitis Pigmentosa, Recessive",
                "Retinitis pigmentosa"
            ],
            "transcript": null,
            "entity_name": "RPE65",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "gene-therapy-trial"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "CORDX1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10295",
                "gene_name": "retinitis pigmentosa GTPase regulator",
                "omim_gene": [
                    "312610"
                ],
                "alias_name": null,
                "gene_symbol": "RPGR",
                "hgnc_symbol": "RPGR",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:38128416-38186817",
                            "ensembl_id": "ENSG00000156313"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:38269163-38327564",
                            "ensembl_id": "ENSG00000156313"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-04-29"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Achromatopsia, Cone, and Cone-rod Dystrophy",
                "Cone - rod  dystrophy  - 1",
                "Macular  degeneration, X - linked atrophic",
                "Retinitis  pigmentosa 3",
                "Retinitis  pigmentosa, X -linked, and  sinorespiratory  infections, with or  without deafness",
                "Retinitis pigmentosa 3, 300029Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455Macular degeneration, X-linked atrophic, 300834Cone-rod dystrophy, X-linked, 1, 304020",
                "Retinitis pigmentosa 3, 300029",
                "Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455",
                "Macular degeneration, X-linked atrophic, 300834",
                "Cone-rod dystrophy, X-linked, 1, 304020",
                "Macular Dystrophy/Degeneration/Stargardt Disease",
                "RPGR-related X-linked Retinitis Pigmentosa",
                "Eye Disorders",
                "Retinitis pigmentosa"
            ],
            "transcript": null,
            "entity_name": "RPGR",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "RGI1",
                    "LCA6",
                    "CORD13"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13436",
                "gene_name": "RPGR interacting protein 1",
                "omim_gene": [
                    "605446"
                ],
                "alias_name": null,
                "gene_symbol": "RPGRIP1",
                "hgnc_symbol": "RPGRIP1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:21756098-21819460",
                            "ensembl_id": "ENSG00000092200"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "14:21287939-21351301",
                            "ensembl_id": "ENSG00000092200"
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                },
                "hgnc_date_symbol_changed": "2000-12-20"
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            "penetrance": "Complete",
            "phenotypes": [
                "Achromatopsia, Cone, and Cone-rod Dystrophy",
                "Cone - rod  dystrophy 13",
                "Leber congenital  amaurosis 6",
                "",
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                "Leber Congenital Amaurosis",
                "Leber congenital amaurosis 6, 613826",
                "Eye Disorders",
                "Retinitis pigmentosa",
                "Cone-Rod Dystrophy, Recessive",
                "Leber congenital amaurosis 6, 613826Cone-rod dystrophy 13, 608194"
            ],
            "transcript": null,
            "entity_name": "RPGRIP1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "KIAA1005",
                    "CORS3",
                    "JBTS7",
                    "MKS5",
                    "NPHP8",
                    "FTM",
                    "PPP1R134"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:29168",
                "gene_name": "RPGRIP1 like",
                "omim_gene": [
                    "610937"
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                "alias_name": [
                    "fantom homolog",
                    "Meckel syndrome, type 5",
                    "protein phosphatase 1, regulatory subunit 134"
                ],
                "gene_symbol": "RPGRIP1L",
                "hgnc_symbol": "RPGRIP1L",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:53631595-53737850",
                            "ensembl_id": "ENSG00000103494"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "16:53597683-53703938",
                            "ensembl_id": "ENSG00000103494"
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                    }
                },
                "hgnc_date_symbol_changed": "2007-05-14"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "COACH syndrome",
                "Joubert syndrome 7",
                "Meckel syndrome 5",
                "Eye Disorders"
            ],
            "transcript": null,
            "entity_name": "RPGRIP1L",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Eligibility statement prior genetic testing",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "XLRS1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10457",
                "gene_name": "retinoschisin 1",
                "omim_gene": [
                    "300839"
                ],
                "alias_name": null,
                "gene_symbol": "RS1",
                "hgnc_symbol": "RS1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:18658030-18690229",
                            "ensembl_id": "ENSG00000102104"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:18639910-18672109",
                            "ensembl_id": "ENSG00000102104"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Developmental macular and foveal dystrophy (males with foveal schisis)",
                "Eye Disorders"
            ],
            "transcript": null,
            "entity_name": "RS1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "ARRESTIN",
                    "RP47"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10521",
                "gene_name": "S-antigen visual arrestin",
                "omim_gene": [
                    "181031"
                ],
                "alias_name": [
                    "arrestin 1",
                    "rod arrestin"
                ],
                "gene_symbol": "SAG",
                "hgnc_symbol": "SAG",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:234216462-234255701",
                            "ensembl_id": "ENSG00000130561"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:233307816-233347055",
                            "ensembl_id": "ENSG00000130561"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1989-09-19"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Oguchi disease - 1",
                "Retinitis  pigmentosa 47",
                "Oguchi Disease",
                "Congenital Stationary Night Blindness",
                "Oguchi disease-1, 258100",
                "Retinitis Pigmentosa, Recessive",
                "Retinitis pigmentosa"
            ],
            "transcript": null,
            "entity_name": "SAG",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "Zfp291"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13081",
                "gene_name": "S-phase cyclin A associated protein in the ER",
                "omim_gene": [
                    "611611"
                ],
                "alias_name": null,
                "gene_symbol": "SCAPER",
                "hgnc_symbol": "SCAPER",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:76640526-77197785",
                            "ensembl_id": "ENSG00000140386"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "15:76347904-76905444",
                            "ensembl_id": "ENSG00000140386"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-08-20"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "More than one phenotype including syndromic cases for syndromic forms of Inherited retinal disease or albinism",
                "Intellectual developmental disorder and retinitis pigmentosa, 618195"
            ],
            "transcript": null,
            "entity_name": "SCAPER",
            "entity_type": "gene",
            "publications": [
                "21937992",
                "28794130",
                "28041643"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "NY-CO-8",
                    "CCCAP",
                    "SLSN7",
                    "NPHP10",
                    "BBS16"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10671",
                "gene_name": "serologically defined colon cancer antigen 8",
                "omim_gene": [
                    "613524"
                ],
                "alias_name": [
                    "centrosomal colon cancer autoantigen protein",
                    "Bardet-Biedl syndrome 16",
                    "nephrocystin 10",
                    "Senior-Loken syndrome 7"
                ],
                "gene_symbol": "SDCCAG8",
                "hgnc_symbol": "SDCCAG8",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:243419320-243663394",
                            "ensembl_id": "ENSG00000054282"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:243256034-243500092",
                            "ensembl_id": "ENSG00000054282"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-08-25"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Eye Disorders"
            ],
            "transcript": null,
            "entity_name": "SDCCAG8",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "NCKX1",
                    "NCKX",
                    "RODX",
                    "KIAA0702",
                    "HsT17412",
                    "CSNB1D"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10975",
                "gene_name": "solute carrier family 24 member 1",
                "omim_gene": [
                    "603617"
                ],
                "alias_name": null,
                "gene_symbol": "SLC24A1",
                "hgnc_symbol": "SLC24A1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:65903704-65953333",
                            "ensembl_id": "ENSG00000074621"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "15:65611366-65660995",
                            "ensembl_id": "ENSG00000074621"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-02-18"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Congenital Stationary Night Blindness",
                "Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830"
            ],
            "transcript": null,
            "entity_name": "SLC24A1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:32434",
                "gene_name": "solute carrier family 38 member 8",
                "omim_gene": [
                    "615585"
                ],
                "alias_name": null,
                "gene_symbol": "SLC38A8",
                "hgnc_symbol": "SLC38A8",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:84043272-84076241",
                            "ensembl_id": "ENSG00000166558"
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                    },
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                            "ensembl_id": "ENSG00000166558"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2008-02-18"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218"
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            "transcript": null,
            "entity_name": "SLC38A8",
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            "publications": [
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                "24045842",
                "15466012",
                "24290379",
                "24045842"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
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                    "U5-200KD",
                    "HELIC2",
                    "KIAA0788",
                    "BRR2"
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                "biotype": "protein_coding",
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                "omim_gene": [
                    "601664"
                ],
                "alias_name": [
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                ],
                "gene_symbol": "SNRNP200",
                "hgnc_symbol": "SNRNP200",
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                "ensembl_genes": {
                    "GRch37": {
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                            "ensembl_id": "ENSG00000144028"
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                    },
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                    }
                },
                "hgnc_date_symbol_changed": "2008-10-29"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Eye Disorders",
                "Retinitis Pigmentosa, Dominant",
                "Retinitis pigmentosa",
                "Retinitis pigmentosa 33, 610359"
            ],
            "transcript": null,
            "entity_name": "SNRNP200",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
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                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:20423",
                "gene_name": "spermatogenesis associated 7",
                "omim_gene": [
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                ],
                "alias_name": null,
                "gene_symbol": "SPATA7",
                "hgnc_symbol": "SPATA7",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "14:88851268-88936694",
                            "ensembl_id": "ENSG00000042317"
                        }
                    },
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                    }
                },
                "hgnc_date_symbol_changed": "2003-03-07"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Leber congenital  amaurosis 3",
                "Retinitis  pigmentosa,  juvenile, autosomal  recessive",
                "Leber Congenital Amaurosis",
                "Leber congenital amaurosis 3, 604232",
                "Retinitis pigmentosa, juvenile, autosomal recessive",
                "Eye Disorders",
                "Leber congenital amaurosis 3, 604232Retinitis pigmentosa, juvenile, autosomal recessive, 604232",
                "Retinitis Pigmentosa, Recessive",
                "Retinitis pigmentosa"
            ],
            "transcript": null,
            "entity_name": "SPATA7",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "NHS GMS"
            ],
            "gene_data": {
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                    "SRD5A2L",
                    "SRD5A2L1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25812",
                "gene_name": "steroid 5 alpha-reductase 3",
                "omim_gene": [
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                "ensembl_genes": {
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                    },
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                    }
                },
                "hgnc_date_symbol_changed": "2007-11-12"
            },
            "penetrance": null,
            "phenotypes": [
                "Congenital disorder of glycosylation, type Iq, 612379",
                "Kahrizi syndrome, 612713"
            ],
            "transcript": null,
            "entity_name": "SRD5A3",
            "entity_type": "gene",
            "publications": [
                "28253385",
                "30019980",
                "24433453"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "NHS GMS"
            ],
            "gene_data": {
                "alias": [
                    "DDP",
                    "MTS"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11817",
                "gene_name": "translocase of inner mitochondrial membrane 8A",
                "omim_gene": [
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                ],
                "alias_name": null,
                "gene_symbol": "TIMM8A",
                "hgnc_symbol": "TIMM8A",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:100600649-100604184",
                            "ensembl_id": "ENSG00000126953"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:101345661-101349196",
                            "ensembl_id": "ENSG00000126953"
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                    }
                },
                "hgnc_date_symbol_changed": "1999-12-01"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Eye Disorders",
                "Mohr-Tranebjaerg syndrome, 304700"
            ],
            "transcript": null,
            "entity_name": "TIMM8A",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11822",
                "gene_name": "TIMP metallopeptidase inhibitor 3",
                "omim_gene": [
                    "188826"
                ],
                "alias_name": null,
                "gene_symbol": "TIMP3",
                "hgnc_symbol": "TIMP3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "22:33197687-33259030",
                            "ensembl_id": "ENSG00000100234"
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                    },
                    "GRch38": {
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                    }
                },
                "hgnc_date_symbol_changed": "1993-04-12"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Sorsby fundus  dystrophy",
                "Eye Disorders",
                "Macular Dystrophy/Degeneration/Stargardt Disease"
            ],
            "transcript": null,
            "entity_name": "TIMP3",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": "Other - please provide details in the comments"
        },
        {
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            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
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                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14432",
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                    },
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                            "ensembl_id": "ENSG00000155755"
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                "hgnc_date_symbol_changed": "2011-05-20"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Eye Disorders"
            ],
            "transcript": null,
            "entity_name": "TMEM237",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "TP53BPL",
                    "LUN"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:21653",
                "gene_name": "TOP1 binding arginine/serine rich protein",
                "omim_gene": [
                    "609507"
                ],
                "alias_name": null,
                "gene_symbol": "TOPORS",
                "hgnc_symbol": "TOPORS",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:32540542-32552551",
                            "ensembl_id": "ENSG00000197579"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "9:32540544-32552553",
                            "ensembl_id": "ENSG00000197579"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-07-07"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Retinitis  pigmentosa 31",
                "Eye Disorders",
                "Retinitis pigmentosa 31, 609923",
                "Retinitis Pigmentosa, Dominant",
                "Retinitis pigmentosa"
            ],
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            "entity_name": "TOPORS",
            "entity_type": "gene",
            "publications": [
                "Review of the literature from Stephanie Barton (Manchester) - Bowne et al (2008) Two different TOPORS mutations, p.Glu808X and p.Arg857GlyfsX9, were each identified in one proband. Patients with these mutations exhibited clinical signs typical of advanced adRP. Mol Vis May 19",
                "14: 922-7",
                "O'Sullivan et al (2012) A paradigm shift in the delivery of services for diagnosis of inherited retinal disease. J Med Genet.  May",
                "49(5):322-6",
                "Identified nonsense mutation Arg847Ter in RP patient",
                "Eisenberger et al (2013) Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies. PLoS One.  Nov 12",
                "8(11):e78496"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "NHS GMS"
            ],
            "gene_data": {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2073",
                "gene_name": "tripeptidyl peptidase 1",
                "omim_gene": [
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                "gene_symbol": "TPP1",
                "hgnc_symbol": "TPP1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "ensembl_id": "ENSG00000166340"
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                    },
                    "GRch38": {
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                            "ensembl_id": "ENSG00000166340"
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                },
                "hgnc_date_symbol_changed": "2004-12-10"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Eye Disorders",
                "Ceroid lipofuscinosis, neuronal, 2, 204500"
            ],
            "transcript": null,
            "entity_name": "TPP1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
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                    "TATIP",
                    "BBS11"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:16380",
                "gene_name": "tripartite motif containing 32",
                "omim_gene": [
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                ],
                "alias_name": null,
                "gene_symbol": "TRIM32",
                "hgnc_symbol": "TRIM32",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "9:119449581-119463579",
                            "ensembl_id": "ENSG00000119401"
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                    },
                    "GRch38": {
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                            "ensembl_id": "ENSG00000119401"
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                },
                "hgnc_date_symbol_changed": "2001-08-10"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Eye Disorders"
            ],
            "transcript": null,
            "entity_name": "TRIM32",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
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                    "CSNB1C"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7146",
                "gene_name": "transient receptor potential cation channel subfamily M member 1",
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                "hgnc_symbol": "TRPM1",
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                },
                "hgnc_date_symbol_changed": "2002-01-18"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Night blindness,  congenital  stationary  (complete), 1C,  autosomal  recessive",
                "Congenital Stationary Night Blindness",
                "Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216"
            ],
            "transcript": null,
            "entity_name": "TRPM1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
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            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
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                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:21641",
                "gene_name": "tetraspanin 12",
                "omim_gene": [
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                ],
                "alias_name": null,
                "gene_symbol": "TSPAN12",
                "hgnc_symbol": "TSPAN12",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "7:120427376-120498456",
                            "ensembl_id": "ENSG00000106025"
                        }
                    },
                    "GRch38": {
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                            "ensembl_id": "ENSG00000106025"
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                },
                "hgnc_date_symbol_changed": "2005-03-21"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Eye Disorders"
            ],
            "transcript": null,
            "entity_name": "TSPAN12",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
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                    "RP51"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:20087",
                "gene_name": "tetratricopeptide repeat domain 8",
                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "TTC8",
                "hgnc_symbol": "TTC8",
                "hgnc_release": "2017-11-03T00:00:00",
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            "penetrance": "Complete",
            "phenotypes": [
                "Eye Disorders",
                "Bardet-Biedl syndrome 8, 209900",
                "Retinitis pigmentosa 51, 613464",
                "Retinitis Pigmentosa, Recessive",
                "Retinitis pigmentosa",
                "?Retinitis pigmentosa 51"
            ],
            "transcript": null,
            "entity_name": "TTC8",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
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            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:19963",
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                "omim_gene": [
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                "gene_symbol": "TTLL5",
                "hgnc_symbol": "TTLL5",
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                "ensembl_genes": {
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                    },
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                "hgnc_date_symbol_changed": "2005-07-29"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Cone-rod dystrophy 19,615860"
            ],
            "transcript": null,
            "entity_name": "TTLL5",
            "entity_type": "gene",
            "publications": [
                "24791901",
                "28173158"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
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            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
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                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12406",
                "gene_name": "tubby bipartite transcription factor",
                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "TUB",
                "hgnc_symbol": "TUB",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "11:8040791-8127659",
                            "ensembl_id": "ENSG00000166402"
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                    },
                    "GRch38": {
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                            "ensembl_id": "ENSG00000166402"
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                },
                "hgnc_date_symbol_changed": "1996-10-11"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Genetic Retinal Degeneration Conditions"
            ],
            "transcript": null,
            "entity_name": "TUB",
            "entity_type": "gene",
            "publications": [
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                "24375934",
                "12076089",
                "10629044"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
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            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
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                    "LCA15"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12423",
                "gene_name": "tubby like protein 1",
                "omim_gene": [
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                "gene_symbol": "TULP1",
                "hgnc_symbol": "TULP1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "HHGP"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:23333",
                "gene_name": "phosphoribosyl transferase domain containing 1",
                "omim_gene": [
                    "610751"
                ],
                "alias_name": null,
                "gene_symbol": "PRTFDC1",
                "hgnc_symbol": "PRTFDC1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:25137536-25241533",
                            "ensembl_id": "ENSG00000099256"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:24848607-24952604",
                            "ensembl_id": "ENSG00000099256"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-11-10"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Retinitis pigmentosa"
            ],
            "transcript": null,
            "entity_name": "PRTFDC1",
            "entity_type": "gene",
            "publications": [
                "28041643"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Red"
            ],
            "gene_data": {
                "alias": [
                    "RB",
                    "PPP1R130"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9884",
                "gene_name": "RB transcriptional corepressor 1",
                "omim_gene": [
                    "614041"
                ],
                "alias_name": [
                    "prepro-retinoblastoma-associated protein",
                    "protein phosphatase 1, regulatory subunit 130"
                ],
                "gene_symbol": "RB1",
                "hgnc_symbol": "RB1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "13:48877887-49056122",
                            "ensembl_id": "ENSG00000139687"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "13:48303751-48481986",
                            "ensembl_id": "ENSG00000139687"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Retinoblastoma"
            ],
            "transcript": null,
            "entity_name": "RB1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Red"
            ],
            "gene_data": {
                "alias": [
                    "FLJ45744",
                    "PERRS",
                    "R9AP",
                    "RGS9"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:30304",
                "gene_name": "regulator of G protein signaling 9 binding protein",
                "omim_gene": [
                    "607814"
                ],
                "alias_name": null,
                "gene_symbol": "RGS9BP",
                "hgnc_symbol": "RGS9BP",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:33166313-33169206",
                            "ensembl_id": "ENSG00000186326"
                        }
                    },
                    "GRch38": {
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                            "location": "19:32675407-32678300",
                            "ensembl_id": "ENSG00000186326"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-10-05"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Achromatopsia, Cone, and Cone-rod Dystrophy",
                "Eye Disorders"
            ],
            "transcript": null,
            "entity_name": "RGS9BP",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Red"
            ],
            "gene_data": {
                "alias": [
                    "RIM",
                    "KIAA0340",
                    "RIM1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17282",
                "gene_name": "regulating synaptic membrane exocytosis 1",
                "omim_gene": [
                    "606629"
                ],
                "alias_name": [
                    "Rab3-interacting molecule"
                ],
                "gene_symbol": "RIMS1",
                "hgnc_symbol": "RIMS1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:72596406-73112845",
                            "ensembl_id": "ENSG00000079841"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:71886703-72403143",
                            "ensembl_id": "ENSG00000079841"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2002-06-14"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Achromatopsia, Cone, and Cone-rod Dystrophy",
                "Eye Disorders",
                "Cone-Rod Dystrophy, Dominant",
                "Cone-rod dystrophy 7, 603649"
            ],
            "transcript": null,
            "entity_name": "RIMS1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Red"
            ],
            "gene_data": {
                "alias": [
                    "TSPAN23",
                    "ROM"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10254",
                "gene_name": "retinal outer segment membrane protein 1",
                "omim_gene": [
                    "180721"
                ],
                "alias_name": null,
                "gene_symbol": "ROM1",
                "hgnc_symbol": "ROM1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:62379194-62382592",
                            "ensembl_id": "ENSG00000149489"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:62611722-62615120",
                            "ensembl_id": "ENSG00000149489"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1990-01-15"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Retinitis  pigmentosa 7,  digenic",
                "Eye Disorders",
                "Retinitis Pigmentosa, Dominant",
                "Retinitis pigmentosa",
                "Retinitis pigmentosa 7, digenic, 608133"
            ],
            "transcript": null,
            "entity_name": "ROM1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "Other - please specifiy in evaluation comments",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Red"
            ],
            "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": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:48413169-48434869",
                            "ensembl_id": "ENSG00000188467"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "15:48120972-48142672",
                            "ensembl_id": "ENSG00000188467"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-03-12"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Eye Disorders"
            ],
            "transcript": null,
            "entity_name": "SLC24A5",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Red"
            ],
            "gene_data": {
                "alias": [
                    "AIM-1",
                    "OCA4"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:16472",
                "gene_name": "solute carrier family 45 member 2",
                "omim_gene": [
                    "606202"
                ],
                "alias_name": null,
                "gene_symbol": "SLC45A2",
                "hgnc_symbol": "SLC45A2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:33944721-33984835",
                            "ensembl_id": "ENSG00000164175"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:33944616-33984730",
                            "ensembl_id": "ENSG00000164175"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-10-06"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Eye Disorders"
            ],
            "transcript": null,
            "entity_name": "SLC45A2",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Red"
            ],
            "gene_data": {
                "alias": [
                    "KIAA1613",
                    "PPP1R142"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:29326",
                "gene_name": "solute carrier family 7 member 14",
                "omim_gene": [
                    "615720"
                ],
                "alias_name": [
                    "protein phosphatase 1, regulatory subunit 142"
                ],
                "gene_symbol": "SLC7A14",
                "hgnc_symbol": "SLC7A14",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:170177372-170303863",
                            "ensembl_id": "ENSG00000013293"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:170459584-170586074",
                            "ensembl_id": "ENSG00000013293"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-06-06"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Retinitis pigmentosa 68, 615725 (3)"
            ],
            "transcript": null,
            "entity_name": "SLC7A14",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Red"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:20318",
                "gene_name": "SPARC related modular calcium binding 1",
                "omim_gene": [
                    "608488"
                ],
                "alias_name": null,
                "gene_symbol": "SMOC1",
                "hgnc_symbol": "SMOC1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:70320848-70499083",
                            "ensembl_id": "ENSG00000198732"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "14:69854131-70032366",
                            "ensembl_id": "ENSG00000198732"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-01-24"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Eye Disorders"
            ],
            "transcript": null,
            "entity_name": "SMOC1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Red"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11195",
                "gene_name": "SRY-box 2",
                "omim_gene": [
                    "184429"
                ],
                "alias_name": null,
                "gene_symbol": "SOX2",
                "hgnc_symbol": "SOX2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "3:181429714-181432221",
                            "ensembl_id": "ENSG00000181449"
                        }
                    },
                    "GRch38": {
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                            "location": "3:181711924-181714436",
                            "ensembl_id": "ENSG00000181449"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-11-30"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Eye Disorders",
                "Retinitis pigmentosa 33, 610359"
            ],
            "transcript": null,
            "entity_name": "SOX2",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Red"
            ],
            "gene_data": {
                "alias": [
                    "CAR",
                    "SPG5C"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11237",
                "gene_name": "SPG7, paraplegin matrix AAA peptidase subunit",
                "omim_gene": [
                    "602783"
                ],
                "alias_name": [
                    "paraplegin"
                ],
                "gene_symbol": "SPG7",
                "hgnc_symbol": "SPG7",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:89557325-89624176",
                            "ensembl_id": "ENSG00000197912"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "16:89490917-89557768",
                            "ensembl_id": "ENSG00000197912"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-06-25"
            },
            "penetrance": "Complete",
            "phenotypes": [],
            "transcript": null,
            "entity_name": "SPG7",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Red"
            ],
            "gene_data": {
                "alias": [
                    "FLJ12541"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:30650",
                "gene_name": "stimulated by retinoic acid 6",
                "omim_gene": [
                    "610745"
                ],
                "alias_name": [
                    "retinol binding protein 4 receptor"
                ],
                "gene_symbol": "STRA6",
                "hgnc_symbol": "STRA6",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "15:74471807-74504608",
                            "ensembl_id": "ENSG00000137868"
                        }
                    },
                    "GRch38": {
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                            "location": "15:74179466-74212267",
                            "ensembl_id": "ENSG00000137868"
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                    }
                },
                "hgnc_date_symbol_changed": "2004-12-20"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Eye Disorders"
            ],
            "transcript": null,
            "entity_name": "STRA6",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Red"
            ],
            "gene_data": {
                "alias": [
                    "FLJ21127",
                    "TECT1",
                    "JBTS13"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:26113",
                "gene_name": "tectonic family member 1",
                "omim_gene": [
                    "609863"
                ],
                "alias_name": null,
                "gene_symbol": "TCTN1",
                "hgnc_symbol": "TCTN1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "12:111051832-111087235",
                            "ensembl_id": "ENSG00000204852"
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                    },
                    "GRch38": {
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                            "location": "12:110614027-110649430",
                            "ensembl_id": "ENSG00000204852"
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                    }
                },
                "hgnc_date_symbol_changed": "2007-08-20"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Eye Disorders"
            ],
            "transcript": null,
            "entity_name": "TCTN1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Red"
            ],
            "gene_data": {
                "alias": [
                    "FLJ12975",
                    "TECT2",
                    "MKS8",
                    "JBTS24"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25774",
                "gene_name": "tectonic family member 2",
                "omim_gene": [
                    "613846"
                ],
                "alias_name": [
                    "Meckel syndrome, type 8"
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                "gene_symbol": "TCTN2",
                "hgnc_symbol": "TCTN2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "12:124155660-124192948",
                            "ensembl_id": "ENSG00000168778"
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                    },
                    "GRch38": {
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                            "location": "12:123671113-123708403",
                            "ensembl_id": "ENSG00000168778"
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                    }
                },
                "hgnc_date_symbol_changed": "2007-08-20"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Eye Disorders"
            ],
            "transcript": null,
            "entity_name": "TCTN2",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Red"
            ],
            "gene_data": {
                "alias": [
                    "DKFZP564D116",
                    "TECT3",
                    "JBTS18"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:24519",
                "gene_name": "tectonic family member 3",
                "omim_gene": [
                    "613847"
                ],
                "alias_name": null,
                "gene_symbol": "TCTN3",
                "hgnc_symbol": "TCTN3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:97423158-97453900",
                            "ensembl_id": "ENSG00000119977"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:95663396-95694143",
                            "ensembl_id": "ENSG00000119977"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-08-20"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Eye Disorders"
            ],
            "transcript": null,
            "entity_name": "TCTN3",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Red"
            ],
            "gene_data": {
                "alias": [
                    "TEF-1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11714",
                "gene_name": "TEA domain transcription factor 1",
                "omim_gene": [
                    "189967"
                ],
                "alias_name": null,
                "gene_symbol": "TEAD1",
                "hgnc_symbol": "TEAD1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:12695969-12966298",
                            "ensembl_id": "ENSG00000187079"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:12674591-12944483",
                            "ensembl_id": "ENSG00000187079"
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                    }
                },
                "hgnc_date_symbol_changed": "1994-09-22"
            },
            "penetrance": "Complete",
            "phenotypes": [],
            "transcript": null,
            "entity_name": "TEAD1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Red"
            ],
            "gene_data": {
                "alias": [
                    "fTEX"
                ],
                "biotype": null,
                "hgnc_id": "HGNC:2563",
                "gene_name": "testis expressed 28",
                "omim_gene": [
                    "300092"
                ],
                "alias_name": null,
                "gene_symbol": "TEX28",
                "hgnc_symbol": "TEX28",
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        "Familial exudative retinopathy",
        "R32",
        "R33",
        "R34",
        "R35"
    ],
    "signed_off": "2020-02-25"
}