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            "penetrance": "Complete",
            "phenotypes": [
                "Myopathy, myofibrillar, 2, 608810",
                "Posterior Polar Cataract"
            ],
            "entity_name": "CRYAB",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2394",
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                    "123610"
                ],
                "alias_name": [
                    "eye lens structural protein"
                ],
                "gene_symbol": "CRYBA1",
                "hgnc_symbol": "CRYBA1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:27573881-27581512",
                            "ensembl_id": "ENSG00000108255"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "17:29246863-29254494",
                            "ensembl_id": "ENSG00000108255"
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                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Cataract 10, multiple types, 600881",
                "cataract congenital zonular with sutural opacities",
                "Cataract 10, multiple types"
            ],
            "entity_name": "CRYBA1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2396",
                "gene_name": "crystallin beta A4",
                "omim_gene": [
                    "123631"
                ],
                "alias_name": null,
                "gene_symbol": "CRYBA4",
                "hgnc_symbol": "CRYBA4",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "22:27017928-27026636",
                            "ensembl_id": "ENSG00000196431"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "22:26621964-26630672",
                            "ensembl_id": "ENSG00000196431"
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                    }
                },
                "hgnc_date_symbol_changed": "1991-07-25"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Cataract 23, 610425"
            ],
            "entity_name": "CRYBA4",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2397",
                "gene_name": "crystallin beta B1",
                "omim_gene": [
                    "600929"
                ],
                "alias_name": null,
                "gene_symbol": "CRYBB1",
                "hgnc_symbol": "CRYBB1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "22:26995242-27014052",
                            "ensembl_id": "ENSG00000100122"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "22:26599278-26618088",
                            "ensembl_id": "ENSG00000100122"
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                    }
                },
                "hgnc_date_symbol_changed": "1994-08-18"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Congenital Nuclear Cataract",
                "Cataract 17, multiple types, 611544"
            ],
            "entity_name": "CRYBB1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2398",
                "gene_name": "crystallin beta B2",
                "omim_gene": [
                    "123620"
                ],
                "alias_name": null,
                "gene_symbol": "CRYBB2",
                "hgnc_symbol": "CRYBB2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "22:25615489-25627836",
                            "ensembl_id": "ENSG00000244752"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "22:25219522-25231869",
                            "ensembl_id": "ENSG00000244752"
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                    }
                },
                "hgnc_date_symbol_changed": "1991-06-28"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Cataract 3, multiple types, 601547",
                "cataract, coppock-like and cataract",
                "congenital cerulean type 2",
                "Cataract 3, multiple types"
            ],
            "entity_name": "CRYBB2",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2400",
                "gene_name": "crystallin beta B3",
                "omim_gene": [
                    "123630"
                ],
                "alias_name": null,
                "gene_symbol": "CRYBB3",
                "hgnc_symbol": "CRYBB3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "22:25595817-25603330",
                            "ensembl_id": "ENSG00000100053"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "22:25199850-25207363",
                            "ensembl_id": "ENSG00000100053"
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                    }
                },
                "hgnc_date_symbol_changed": "1988-05-11"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Congenital Nuclear Cataract",
                "Cataract 22, autosomal recessive, 609741"
            ],
            "entity_name": "CRYBB3",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2410",
                "gene_name": "crystallin gamma C",
                "omim_gene": [
                    "123680"
                ],
                "alias_name": null,
                "gene_symbol": "CRYGC",
                "hgnc_symbol": "CRYGC",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:208992861-208994554",
                            "ensembl_id": "ENSG00000163254"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:208128137-208129830",
                            "ensembl_id": "ENSG00000163254"
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                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Cataract 2, multiple types, 604307",
                "cataract autosomal dominant",
                "cataract coppock-like",
                "Cataract 2, multiple types"
            ],
            "entity_name": "CRYGC",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2411",
                "gene_name": "crystallin gamma D",
                "omim_gene": [
                    "123690"
                ],
                "alias_name": null,
                "gene_symbol": "CRYGD",
                "hgnc_symbol": "CRYGD",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:208986331-208989225",
                            "ensembl_id": "ENSG00000118231"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:208121607-208124501",
                            "ensembl_id": "ENSG00000118231"
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                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Cataracts",
                "Cataract 4, multiple types, 115700",
                "CATARACT CONGENITAL CERULEAN TYPE 3",
                "CATARACT AUTOSOMAL DOMINANT"
            ],
            "entity_name": "CRYGD",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2417",
                "gene_name": "crystallin gamma S",
                "omim_gene": [
                    "123730"
                ],
                "alias_name": [
                    "crystallin, gamma 8"
                ],
                "gene_symbol": "CRYGS",
                "hgnc_symbol": "CRYGS",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:186256230-186264491",
                            "ensembl_id": "ENSG00000213139"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:186538441-186546702",
                            "ensembl_id": "ENSG00000213139"
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                    }
                },
                "hgnc_date_symbol_changed": "1989-05-25"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Cataract 20, multiple types, 116100"
            ],
            "entity_name": "CRYGS",
            "entity_type": "gene",
            "publications": [
                "Sun et al (2005) J Med Genet 42:706-710",
                "Vanita et al (2009) Mol Vis 15:476-481",
                "Devi et al (2008) Mol Vis 14:1157-1170"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "CTX",
                    "CP27"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2605",
                "gene_name": "cytochrome P450 family 27 subfamily A member 1",
                "omim_gene": [
                    "606530"
                ],
                "alias_name": [
                    "cerebrotendinous xanthomatosis"
                ],
                "gene_symbol": "CYP27A1",
                "hgnc_symbol": "CYP27A1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:219646472-219680016",
                            "ensembl_id": "ENSG00000135929"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "2:218781749-218815293",
                            "ensembl_id": "ENSG00000135929"
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                    }
                },
                "hgnc_date_symbol_changed": "1991-08-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Cerebrotendinous xanthomatosis, 213700"
            ],
            "entity_name": "CYP27A1",
            "entity_type": "gene",
            "publications": [
                "Gallus et al (2010) Eur J Neurol 17:1259-1262",
                "Garuti et al (1997) J Lipid Res 38:2322-2334"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert list"
            ],
            "gene_data": {
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                    "CYPL1",
                    "P450L1",
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2649",
                "gene_name": "cytochrome P450 family 51 subfamily A member 1",
                "omim_gene": [
                    "601637"
                ],
                "alias_name": null,
                "gene_symbol": "CYP51A1",
                "hgnc_symbol": "CYP51A1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:91741465-91772266",
                            "ensembl_id": "ENSG00000001630"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "7:92112151-92142952",
                            "ensembl_id": "ENSG00000001630"
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                    }
                },
                "hgnc_date_symbol_changed": "2003-02-28"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Autosomal recessive cataract due to abnormal sterol metabolism"
            ],
            "entity_name": "CYP51A1",
            "entity_type": "gene",
            "publications": [
                "Aldahmesh (2012) Genet Med 14(12):955-962 - novel missense variant was reported to segregate with a cataract phenotype in a Saudi Arabian family. Gillespie et al (2014) Ophthlamol 121:2124-2137 (article not available for full text access)."
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2860",
                "gene_name": "7-dehydrocholesterol reductase",
                "omim_gene": [
                    "602858"
                ],
                "alias_name": null,
                "gene_symbol": "DHCR7",
                "hgnc_symbol": "DHCR7",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:71139239-71163914",
                            "ensembl_id": "ENSG00000172893"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "11:71428193-71452868",
                            "ensembl_id": "ENSG00000172893"
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                    }
                },
                "hgnc_date_symbol_changed": "1998-04-27"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Smith-Lemli-Opitz syndrome"
            ],
            "entity_name": "DHCR7",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert list",
                "Expert Review Green"
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            "gene_data": {
                "alias": [
                    "KIAA1010",
                    "Tuba",
                    "ARHGEF36"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:30373",
                "gene_name": "dynamin binding protein",
                "omim_gene": [
                    "611282"
                ],
                "alias_name": [
                    "scaffold protein TUBA"
                ],
                "gene_symbol": "DNMBP",
                "hgnc_symbol": "DNMBP",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:101635334-101769676",
                            "ensembl_id": "ENSG00000107554"
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                    },
                    "GRch38": {
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                            "location": "10:99875577-100009919",
                            "ensembl_id": "ENSG00000107554"
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                    }
                },
                "hgnc_date_symbol_changed": "2004-04-05"
            },
            "penetrance": null,
            "phenotypes": [
                "Cataract 48, 618415"
            ],
            "entity_name": "DNMBP",
            "entity_type": "gene",
            "publications": [
                "30290152"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Literature"
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            "gene_data": {
                "alias": [
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                    "HEED"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3188",
                "gene_name": "embryonic ectoderm development",
                "omim_gene": [
                    "605984"
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                "alias_name": [
                    "WD protein associating with integrin cytoplasmic tails 1"
                ],
                "gene_symbol": "EED",
                "hgnc_symbol": "EED",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:85955586-85989855",
                            "ensembl_id": "ENSG00000074266"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "11:86244544-86278813",
                            "ensembl_id": "ENSG00000074266"
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                    }
                },
                "hgnc_date_symbol_changed": "1998-12-09"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Cohen-Gibson syndrome\t617561"
            ],
            "entity_name": "EED",
            "entity_type": "gene",
            "publications": [
                "25787343",
                "27193220",
                "27868325",
                "28229514"
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            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert list"
            ],
            "gene_data": {
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                    "EIF2B",
                    "EIF-2Bbeta"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3258",
                "gene_name": "eukaryotic translation initiation factor 2B subunit beta",
                "omim_gene": [
                    "606454"
                ],
                "alias_name": null,
                "gene_symbol": "EIF2B2",
                "hgnc_symbol": "EIF2B2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:75469614-75476292",
                            "ensembl_id": "ENSG00000119718"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "14:75002911-75012366",
                            "ensembl_id": "ENSG00000119718"
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                    }
                },
                "hgnc_date_symbol_changed": "1998-10-16"
            },
            "penetrance": null,
            "phenotypes": [
                "Leukoencephalopathy with vanishing white matter, 603896"
            ],
            "entity_name": "EIF2B2",
            "entity_type": "gene",
            "publications": [
                "28041799",
                "21484434",
                "14566705"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services"
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            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3386",
                "gene_name": "EPH receptor A2",
                "omim_gene": [
                    "176946"
                ],
                "alias_name": null,
                "gene_symbol": "EPHA2",
                "hgnc_symbol": "EPHA2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:16450832-16482582",
                            "ensembl_id": "ENSG00000142627"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "1:16124337-16156087",
                            "ensembl_id": "ENSG00000142627"
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                    }
                },
                "hgnc_date_symbol_changed": "1991-08-07"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Age-Related Cortical Cataract",
                "Cataract 6, multiple types, 116600"
            ],
            "entity_name": "EPHA2",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert list"
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            "gene_data": {
                "alias": [
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                    "EM9",
                    "MGC102762",
                    "MGC126218",
                    "MGC126219",
                    "TFIIH"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3434",
                "gene_name": "ERCC excision repair 2, TFIIH core complex helicase subunit",
                "omim_gene": [
                    "126340"
                ],
                "alias_name": [
                    "excision repair cross-complementing rodent repair deficiency, complementation group 2 protein",
                    "TFIIH basal transcription factor complex helicase XPB subunit"
                ],
                "gene_symbol": "ERCC2",
                "hgnc_symbol": "ERCC2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:45853095-45874176",
                            "ensembl_id": "ENSG00000104884"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:45349837-45370918",
                            "ensembl_id": "ENSG00000104884"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Cerebrooculofacioskeletal syndrome 2",
                "Trichothiodystrophy",
                "CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 2",
                "TRICHOTHIODYSTROPHY PHOTOSENSITIVE"
            ],
            "entity_name": "ERCC2",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "XPB",
                    "BTF2",
                    "RAD25",
                    "TFIIH",
                    "GTF2H"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3435",
                "gene_name": "ERCC excision repair 3, TFIIH core complex helicase subunit",
                "omim_gene": [
                    "133510"
                ],
                "alias_name": [
                    "xeroderma pigmentosum group B complementing"
                ],
                "gene_symbol": "ERCC3",
                "hgnc_symbol": "ERCC3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:128014866-128051752",
                            "ensembl_id": "ENSG00000163161"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:127257290-127294176",
                            "ensembl_id": "ENSG00000163161"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Trichothiodystrophy"
            ],
            "entity_name": "ERCC3",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "CSB",
                    "RAD26",
                    "ARMD5"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3438",
                "gene_name": "ERCC excision repair 6, chromatin remodeling factor",
                "omim_gene": [
                    "609413"
                ],
                "alias_name": [
                    "Cockayne syndrome B protein"
                ],
                "gene_symbol": "ERCC6",
                "hgnc_symbol": "ERCC6",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:50663414-50747584",
                            "ensembl_id": "ENSG00000225830"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:49455368-49539538",
                            "ensembl_id": "ENSG00000225830"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1989-06-30"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Cockayne syndrome type B",
                "UV-sensitivesyndrome 1",
                "Cerebrooculofacioskeletalsyndrome 1"
            ],
            "entity_name": "ERCC6",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "CSA"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3439",
                "gene_name": "ERCC excision repair 8, CSA ubiquitin ligase complex subunit",
                "omim_gene": [
                    "609412"
                ],
                "alias_name": null,
                "gene_symbol": "ERCC8",
                "hgnc_symbol": "ERCC8",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:60169658-60240900",
                            "ensembl_id": "ENSG00000049167"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:60873831-60945073",
                            "ensembl_id": "ENSG00000049167"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1995-02-07"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Cockayne syndrome type A MIMID",
                "UV-sensitive syndrome 2",
                "confirmed DD gene for Cockayne Syndrome Type A"
            ],
            "entity_name": "ERCC8",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "gene_data": {
                "alias": [
                    "DRCTNNB1A",
                    "HCC",
                    "HYCC1",
                    "hyccin"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:24587",
                "gene_name": "family with sequence similarity 126 member A",
                "omim_gene": [
                    "610531"
                ],
                "alias_name": [
                    "down regulated by Ctnnb1, a"
                ],
                "gene_symbol": "FAM126A",
                "hgnc_symbol": "FAM126A",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:22980878-23053749",
                            "ensembl_id": "ENSG00000122591"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:22889371-23014130",
                            "ensembl_id": "ENSG00000122591"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-09-06"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Hypomyelination and Congenital Cataract",
                "Leukodystrophy hypomyelinating 5",
                "Leukodystrophy hypomyelinating type 5"
            ],
            "entity_name": "FAM126A",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "FREAC8"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3808",
                "gene_name": "forkhead box E3",
                "omim_gene": [
                    "601094"
                ],
                "alias_name": null,
                "gene_symbol": "FOXE3",
                "hgnc_symbol": "FOXE3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:47881744-47883723",
                            "ensembl_id": "ENSG00000186790"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:47416072-47418052",
                            "ensembl_id": "ENSG00000186790"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1995-06-05"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Autosomal dominant cataracts",
                "Peter's anomaly, microphthalmia."
            ],
            "entity_name": "FOXE3",
            "entity_type": "gene",
            "publications": [
                "Iseri et al (2009) Hum Mutat 30:1378-1386",
                "Semina et al (2001) Hum Mol Genet 10:231-236",
                "Br mond-Gignac et al (2010) Mol Vis 16:1705-1711."
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "MGC71996",
                    "NBIA3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3999",
                "gene_name": "ferritin light chain",
                "omim_gene": [
                    "134790"
                ],
                "alias_name": [
                    "ferritin light polypeptide-like 3",
                    "L apoferritin",
                    "ferritin L subunit",
                    "ferritin light chain",
                    "ferritin L-chain",
                    "neurodegeneration with brain iron accumulation 3"
                ],
                "gene_symbol": "FTL",
                "hgnc_symbol": "FTL",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:49468558-49470135",
                            "ensembl_id": "ENSG00000087086"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:48965301-48966878",
                            "ensembl_id": "ENSG00000087086"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Hyperferritinemia-cataract syndrome, 600886",
                "Hyperferritinemia Cataract Syndrome",
                "HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME"
            ],
            "entity_name": "FTL",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "gene_data": {
                "alias": [
                    "FLJ13335",
                    "ZFYVE7"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14673",
                "gene_name": "FYVE and coiled-coil domain containing 1",
                "omim_gene": [
                    "607182"
                ],
                "alias_name": null,
                "gene_symbol": "FYCO1",
                "hgnc_symbol": "FYCO1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:45959396-46037316",
                            "ensembl_id": "ENSG00000163820"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:45917899-45995824",
                            "ensembl_id": "ENSG00000163820"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-03-06"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Congenital Cataract",
                "Cataract 18, autosomal recessive, 610019",
                "Cataract 18, autosomal recessive",
                "CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2"
            ],
            "entity_name": "FYCO1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4118",
                "gene_name": "galactokinase 1",
                "omim_gene": [
                    "604313"
                ],
                "alias_name": null,
                "gene_symbol": "GALK1",
                "hgnc_symbol": "GALK1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:73747675-73761792",
                            "ensembl_id": "ENSG00000108479"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:75751594-75765711",
                            "ensembl_id": "ENSG00000108479"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Galactokinase deficiency with cataracts, 230200",
                "Galactokinase deficiency with cataracts",
                "galactosemia II"
            ],
            "entity_name": "GALK1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4135",
                "gene_name": "galactose-1-phosphate uridylyltransferase",
                "omim_gene": [
                    "606999"
                ],
                "alias_name": null,
                "gene_symbol": "GALT",
                "hgnc_symbol": "GALT",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:34638130-34651032",
                            "ensembl_id": "ENSG00000213930"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:34638133-34651035",
                            "ensembl_id": "ENSG00000213930"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Confirmed DD gene for galactosemia"
            ],
            "entity_name": "GALT",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "gene_data": {
                "alias": [
                    "IGNT",
                    "NAGCT1",
                    "bA421M1.1",
                    "bA360O19.2",
                    "ULG3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4204",
                "gene_name": "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)",
                "omim_gene": [
                    "600429"
                ],
                "alias_name": [
                    "Ii blood group",
                    "unassigned linkage group 3"
                ],
                "gene_symbol": "GCNT2",
                "hgnc_symbol": "GCNT2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:10492456-10629601",
                            "ensembl_id": "ENSG00000111846"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:10492223-10629368",
                            "ensembl_id": "ENSG00000111846"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-09-07"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Adult i Blood Group With or Without Congenital Cataract",
                "[Blood group, Ii], 110800"
            ],
            "entity_name": "GCNT2",
            "entity_type": "gene",
            "publications": [
                "Yu et al (2001) Blood 98:3840-3845",
                "Pras et al (2004) Invest Ophthalmol 45:1940-5"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "HHRF-1",
                    "DKFZP434B131",
                    "p97",
                    "DKFZP434D174",
                    "HC56",
                    "HCAP1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:15717",
                "gene_name": "gem nuclear organelle associated protein 4",
                "omim_gene": [
                    "606969"
                ],
                "alias_name": [
                    "HCC-associated protein 1",
                    "component of gems 4"
                ],
                "gene_symbol": "GEMIN4",
                "hgnc_symbol": "GEMIN4",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:647654-657239",
                            "ensembl_id": "ENSG00000179409"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:744414-753999",
                            "ensembl_id": "ENSG00000179409"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-08-07"
            },
            "penetrance": null,
            "phenotypes": [
                "Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913"
            ],
            "entity_name": "GEMIN4",
            "entity_type": "gene",
            "publications": [
                "27878435",
                "25558065"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "gene_data": {
                "alias": [
                    "CX46"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4277",
                "gene_name": "gap junction protein alpha 3",
                "omim_gene": [
                    "121015"
                ],
                "alias_name": [
                    "connexin 46"
                ],
                "gene_symbol": "GJA3",
                "hgnc_symbol": "GJA3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "13:20712394-20735188",
                            "ensembl_id": "ENSG00000121743"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "13:20138255-20161049",
                            "ensembl_id": "ENSG00000121743"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1990-02-12"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Zonular Pulverulent Cataract",
                "Cataract 14, multiple types, 601885",
                "CATARACT ZONULAR PULVERULENT CATARACT TYPE 3",
                "Cataract 14, multiple types"
            ],
            "entity_name": "GJA3",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "gene_data": {
                "alias": [
                    "CX50"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4281",
                "gene_name": "gap junction protein alpha 8",
                "omim_gene": [
                    "600897"
                ],
                "alias_name": [
                    "connexin 50"
                ],
                "gene_symbol": "GJA8",
                "hgnc_symbol": "GJA8",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:147374946-147381393",
                            "ensembl_id": "ENSG00000121634"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:147907956-147909257",
                            "ensembl_id": "ENSG00000121634"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1995-11-29"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Cataract-Microcornea Syndrome",
                "Cataract 1, multiple types, 116200",
                "CATARACT-MICROCORNEA SYNDROME",
                "CATARACT ZONULAR PULVERULENT TYPE 1",
                "Cataract 1, multiple types"
            ],
            "entity_name": "GJA8",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "DHAPAT",
                    "DAPAT",
                    "DAP-AT"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4416",
                "gene_name": "glyceronephosphate O-acyltransferase",
                "omim_gene": [
                    "602744"
                ],
                "alias_name": [
                    "glycerone-phosphate O-acyltransferase",
                    "dihydroxyacetone phosphate acyltransferase"
                ],
                "gene_symbol": "GNPAT",
                "hgnc_symbol": "GNPAT",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:231376953-231413719",
                            "ensembl_id": "ENSG00000116906"
                        }
                    },
                    "GRch38": {
                        "90": {
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                            "ensembl_id": "ENSG00000116906"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-10-29"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Confirmed DD gene for Rhizomelic Chondrodysplasia Punctata type 2",
                "rhizomelic chondrodysplasia punctata type 2 (RCDP2)"
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            "entity_name": "GNPAT",
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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        },
        {
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                "Expert list",
                "Expert Review Green"
            ],
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                    "FLJ30544",
                    "bA120J8.2",
                    "TTD-A",
                    "TFB5",
                    "TFIIH",
                    "TTDA"
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                    },
                    "GRch38": {
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                            "ensembl_id": "ENSG00000272047"
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                    }
                },
                "hgnc_date_symbol_changed": "2004-07-16"
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            "penetrance": null,
            "phenotypes": [
                "Trichothiodystrophy 3, photosensitive, 616395"
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            "entity_name": "GTF2H5",
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            "publications": [
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                "15220921"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "H6",
                    "NKX5-3"
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                "hgnc_symbol": "HMX1",
                "hgnc_release": "2017-11-03T00:00:00",
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                            "ensembl_id": "ENSG00000215612"
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                    },
                    "GRch38": {
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                    }
                },
                "hgnc_date_symbol_changed": "1994-12-19"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Oculoauricular syndrome"
            ],
            "entity_name": "HMX1",
            "entity_type": "gene",
            "publications": [
                "Gillespie et al (2015) Invest. Ophthal. Vis. Sci. 56: 883-891",
                "Schorderet et al (2008) Am. J. Hum. Genet. 82: 1178-1184"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:5227",
                "gene_name": "heat shock transcription factor 4",
                "omim_gene": [
                    "602438"
                ],
                "alias_name": null,
                "gene_symbol": "HSF4",
                "hgnc_symbol": "HSF4",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:67197288-67203848",
                            "ensembl_id": "ENSG00000102878"
                        }
                    },
                    "GRch38": {
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                            "location": "16:67164681-67169945",
                            "ensembl_id": "ENSG00000102878"
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                    }
                },
                "hgnc_date_symbol_changed": "1998-03-17"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Cataracts",
                "Cataract 5, multiple types, 116800",
                "CATARACT ZONULAR HSF4-RELATED",
                "CATARACT MARNER TYPE"
            ],
            "entity_name": "HSF4",
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            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "OMI",
                    "PARK13"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14348",
                "gene_name": "HtrA serine peptidase 2",
                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "HTRA2",
                "hgnc_symbol": "HTRA2",
                "hgnc_release": "2017-11-03T00:00:00",
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                    "GRch37": {
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                            "location": "2:74756504-74760472",
                            "ensembl_id": "ENSG00000115317"
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                    },
                    "GRch38": {
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                            "location": "2:74529377-74533348",
                            "ensembl_id": "ENSG00000115317"
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                    }
                },
                "hgnc_date_symbol_changed": "2005-08-19"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "3-methylglutaconic aciduria, type VIII\t617248"
            ],
            "entity_name": "HTRA2",
            "entity_type": "gene",
            "publications": [
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                "27696117"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "SKIP"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:33882",
                "gene_name": "inositol polyphosphate-5-phosphatase K",
                "omim_gene": [
                    "607875"
                ],
                "alias_name": [
                    "skeletal muscle and kidney enriched inositol phosphatase"
                ],
                "gene_symbol": "INPP5K",
                "hgnc_symbol": "INPP5K",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:1397865-1420182",
                            "ensembl_id": "ENSG00000132376"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "17:1494571-1516888",
                            "ensembl_id": "ENSG00000132376"
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                    }
                },
                "hgnc_date_symbol_changed": "2008-09-09"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Congenital Muscular Dystrophy Overlapping Marinesco-Sjogren Syndrome and Dystroglycanopathy",
                "Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment"
            ],
            "entity_name": "INPP5K",
            "entity_type": "gene",
            "publications": [
                "28190459",
                "28190456"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [
                    "JAM-C",
                    "JAMC"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:15532",
                "gene_name": "junctional adhesion molecule 3",
                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "JAM3",
                "hgnc_symbol": "JAM3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "11:133938820-134021896",
                            "ensembl_id": "ENSG00000166086"
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                    },
                    "GRch38": {
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                            "location": "11:134068925-134152001",
                            "ensembl_id": "ENSG00000166086"
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                    }
                },
                "hgnc_date_symbol_changed": "2001-04-26"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730",
                "Hemorrhagic destruction of the brain, subependymal calcification, and cataracts"
            ],
            "entity_name": "JAM3",
            "entity_type": "gene",
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
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            "evidence": [
                "Expert Review Green",
                "Expert Review"
            ],
            "gene_data": {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6522",
                "gene_name": "lecithin-cholesterol acyltransferase",
                "omim_gene": [
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                ],
                "alias_name": [
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                "gene_symbol": "LCAT",
                "hgnc_symbol": "LCAT",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:67973653-67978034",
                            "ensembl_id": "ENSG00000213398"
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                    },
                    "GRch38": {
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                            "location": "16:67939750-67944131",
                            "ensembl_id": "ENSG00000213398"
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                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Fish-eye disease\t136120",
                "Norum disease\t245900"
            ],
            "entity_name": "LCAT",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "gene_data": {
                "alias": [
                    "MP19",
                    "MP17"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6610",
                "gene_name": "lens intrinsic membrane protein 2",
                "omim_gene": [
                    "154045"
                ],
                "alias_name": null,
                "gene_symbol": "LIM2",
                "hgnc_symbol": "LIM2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:51883163-51891214",
                            "ensembl_id": "ENSG00000105370"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:51379909-51387960",
                            "ensembl_id": "ENSG00000105370"
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                    }
                },
                "hgnc_date_symbol_changed": "1992-12-04"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Cortical Pulverulent Cataract",
                "Cataract 19, 615277"
            ],
            "entity_name": "LIM2",
            "entity_type": "gene",
            "publications": [
                "Ponnam et al (2008) Mol Vis 14:1204-1208",
                "Pras et al (2002) Am J Hum genet 70:1363-7"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
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            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
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                    "hLON",
                    "PIM1"
                ],
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                "hgnc_id": "HGNC:9479",
                "gene_name": "lon peptidase 1, mitochondrial",
                "omim_gene": [
                    "605490"
                ],
                "alias_name": null,
                "gene_symbol": "LONP1",
                "hgnc_symbol": "LONP1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                        "82": {
                            "location": "19:5691845-5720583",
                            "ensembl_id": "ENSG00000196365"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "19:5691834-5720572",
                            "ensembl_id": "ENSG00000196365"
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                    }
                },
                "hgnc_date_symbol_changed": "2006-10-20"
            },
            "penetrance": null,
            "phenotypes": [
                "CODAS syndrome, 600373"
            ],
            "entity_name": "LONP1",
            "entity_type": "gene",
            "publications": [
                "25574826",
                "26622071",
                "27878435",
                "29408517",
                "25808063",
                "28148925"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert list",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "OSC"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6708",
                "gene_name": "lanosterol synthase",
                "omim_gene": [
                    "600909"
                ],
                "alias_name": [
                    "Oxidosqualene-lanosterol cyclase"
                ],
                "gene_symbol": "LSS",
                "hgnc_symbol": "LSS",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "21:47608055-47648738",
                            "ensembl_id": "ENSG00000160285"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "21:46188141-46228824",
                            "ensembl_id": "ENSG00000160285"
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                    }
                },
                "hgnc_date_symbol_changed": "1998-05-07"
            },
            "penetrance": null,
            "phenotypes": [
                "Cataract 44, 616509"
            ],
            "entity_name": "LSS",
            "entity_type": "gene",
            "publications": [
                "16440058",
                "29016354",
                "26200641"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [
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                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6776",
                "gene_name": "MAF bZIP transcription factor",
                "omim_gene": [
                    "177075"
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                "alias_name": null,
                "gene_symbol": "MAF",
                "hgnc_symbol": "MAF",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:79619740-79634611",
                            "ensembl_id": "ENSG00000178573"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "16:79585843-79600714",
                            "ensembl_id": "ENSG00000178573"
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                    }
                },
                "hgnc_date_symbol_changed": "1991-08-01"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Cataract, pulverulent or cerulean, with or without microcornea, 610202",
                "CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES",
                "CATARACT CONGENITAL CERULEAN TYPE 4",
                "CATARACT PULVERULENT JUVENILE-ONSET MAF-RELATED (CAPJOM)",
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                "Cataract 21, multiple types",
                "Cataract pulverulent or cerulean with or without microcornea"
            ],
            "entity_name": "MAF",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "LAMAN"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6826",
                "gene_name": "mannosidase alpha class 2B member 1",
                "omim_gene": [
                    "609458"
                ],
                "alias_name": null,
                "gene_symbol": "MAN2B1",
                "hgnc_symbol": "MAN2B1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                        "82": {
                            "location": "19:12757325-12777556",
                            "ensembl_id": "ENSG00000104774"
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                    },
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                            "location": "19:12646511-12666742",
                            "ensembl_id": "ENSG00000104774"
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                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Mannosidosis alpha- types I and II"
            ],
            "entity_name": "MAN2B1",
            "entity_type": "gene",
            "publications": [
                "Riise Steinland et al (2011) Hum Mutat 33:511-520",
                "Berg et al (1999) Am j Hum Genet 64:77-88",
                "Gotoda et al (1998) Am J Hum Genet 63:1015-1024",
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            ],
            "confidence_level": "3",
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            "mode_of_pathogenicity": ""
        },
        {
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            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
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                    "LIM1",
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                "biotype": "protein_coding",
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                "gene_name": "major intrinsic protein of lens fiber",
                "omim_gene": [
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                "gene_symbol": "MIP",
                "hgnc_symbol": "MIP",
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                            "ensembl_id": "ENSG00000135517"
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                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
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                "Cataract 15, multiple types, 615274"
            ],
            "entity_name": "MIP",
            "entity_type": "gene",
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            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
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            ],
            "evidence": [
                "Expert Review Green",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
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                ],
                "biotype": "miRNA",
                "hgnc_id": "HGNC:31555",
                "gene_name": "microRNA 184",
                "omim_gene": [
                    "613146"
                ],
                "alias_name": null,
                "gene_symbol": "MIR184",
                "hgnc_symbol": "MIR184",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:79502130-79502213",
                            "ensembl_id": "ENSG00000207695"
                        }
                    },
                    "GRch38": {
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                            "location": "15:79209788-79209871",
                            "ensembl_id": "ENSG00000207695"
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                    }
                },
                "hgnc_date_symbol_changed": "2008-12-18"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "EDICT"
            ],
            "entity_name": "MIR184",
            "entity_type": "gene",
            "publications": [
                "Lechner et al (2013) Invest Ophthalmol Vis Sci 54:5266-5372",
                "Hughes et al (2013) IOVS 54:5266",
                "iliff et al (2012) IOVS 53:348-353"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
            ],
            "gene_data": {
                "alias": [
                    "DESP4",
                    "ERG25"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10545",
                "gene_name": "methylsterol monooxygenase 1",
                "omim_gene": [
                    "607545"
                ],
                "alias_name": null,
                "gene_symbol": "MSMO1",
                "hgnc_symbol": "MSMO1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:166248775-166264312",
                            "ensembl_id": "ENSG00000052802"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "4:165327623-165343160",
                            "ensembl_id": "ENSG00000052802"
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                    }
                },
                "hgnc_date_symbol_changed": "2011-09-01"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834"
            ],
            "entity_name": "MSMO1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "NMMHCA",
                    "NMHC-II-A",
                    "MHA",
                    "FTNS",
                    "EPSTS"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7579",
                "gene_name": "myosin heavy chain 9",
                "omim_gene": [
                    "160775"
                ],
                "alias_name": [
                    "nonmuscle myosin heavy chain II-A"
                ],
                "gene_symbol": "MYH9",
                "hgnc_symbol": "MYH9",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "22:36677327-36784063",
                            "ensembl_id": "ENSG00000100345"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "22:36281281-36388018",
                            "ensembl_id": "ENSG00000100345"
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                    }
                },
                "hgnc_date_symbol_changed": "1990-03-12"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Epstein syndrome",
                "Fechtner syndrome"
            ],
            "entity_name": "MYH9",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "norrin"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7678",
                "gene_name": "NDP, norrin cystine knot growth factor",
                "omim_gene": [
                    "300658"
                ],
                "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"
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                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Norrie Disease"
            ],
            "entity_name": "NDP",
            "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",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "merlin",
                    "ACN",
                    "SCH",
                    "BANF"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7773",
                "gene_name": "neurofibromin 2",
                "omim_gene": [
                    "607379"
                ],
                "alias_name": [
                    "moesin-ezrin-radixin like",
                    "schwannomin"
                ],
                "gene_symbol": "NF2",
                "hgnc_symbol": "NF2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "22:29999545-30094587",
                            "ensembl_id": "ENSG00000186575"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "22:29603556-29698598",
                            "ensembl_id": "ENSG00000186575"
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                    }
                },
                "hgnc_date_symbol_changed": "1992-01-01"
            },
            "penetrance": "Complete",
            "phenotypes": [],
            "entity_name": "NF2",
            "entity_type": "gene",
            "publications": [
                "Baser et al (2011) Genet Med 13(6):576-581"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7820",
                "gene_name": "NHS actin remodeling regulator",
                "omim_gene": [
                    "300457"
                ],
                "alias_name": null,
                "gene_symbol": "NHS",
                "hgnc_symbol": "NHS",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:17393543-17754114",
                            "ensembl_id": "ENSG00000188158"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "X:17375420-17735994",
                            "ensembl_id": "ENSG00000188158"
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                    }
                },
                "hgnc_date_symbol_changed": "1989-06-30"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Nance-Horan syndrome, 302350",
                "Nance-Horan syndrome MIMID, Cataract congenital X-linked",
                "cataract congenital X-linked",
                "Nance-Horan syndrome",
                "Nance-Horan syndrome, 302350",
                "X-linked cataracts"
            ],
            "entity_name": "NHS",
            "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": [
                "Expert Review Green",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "OCRL1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8108",
                "gene_name": "OCRL, inositol polyphosphate-5-phosphatase",
                "omim_gene": [
                    "300535"
                ],
                "alias_name": null,
                "gene_symbol": "OCRL",
                "hgnc_symbol": "OCRL",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:128673826-128726538",
                            "ensembl_id": "ENSG00000122126"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:129539849-129592561",
                            "ensembl_id": "ENSG00000122126"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Lowe syndrome",
                "Confirmed DD gene for LOWE OCULOCEREBRORENAL SYNDROME"
            ],
            "entity_name": "OCRL",
            "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",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [
                    "FLJ22187",
                    "MGA3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8142",
                "gene_name": "OPA3, outer mitochondrial membrane lipid metabolism regulator",
                "omim_gene": [
                    "606580"
                ],
                "alias_name": null,
                "gene_symbol": "OPA3",
                "hgnc_symbol": "OPA3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:46030685-46105470",
                            "ensembl_id": "ENSG00000125741"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:45527427-45602212",
                            "ensembl_id": "ENSG00000125741"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-03-12"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "3-methylglutaconic aciduria, type III, 258501",
                "autosomal dominant optic atrophy with cataract (ADOAC)"
            ],
            "entity_name": "OPA3",
            "entity_type": "gene",
            "publications": [
                "Reynier et al (2004) J Med genet 41:e110",
                "Grau et al (2013) J Med Genet 50:848-858"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [
                    "FLJ10718",
                    "MLAT4"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:19317",
                "gene_name": "prolyl 3-hydroxylase 2",
                "omim_gene": [
                    "610341"
                ],
                "alias_name": [
                    "procollagen-proline 3-dioxygenase 2"
                ],
                "gene_symbol": "P3H2",
                "hgnc_symbol": "P3H2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:189674517-189840226",
                            "ensembl_id": "ENSG00000090530"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:189956728-190122437",
                            "ensembl_id": "ENSG00000090530"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2014-12-12"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Myopia, high, with cataract and vitreoretinal degeneration, 614292 -3"
            ],
            "entity_name": "P3H2",
            "entity_type": "gene",
            "publications": [
                "Guo et al (2014) Clin Genet 86:575-579 PMID: 24172257",
                "Khan et al (2015) Ophthalmic Genet. 36: 58-63 PMID: 25469533",
                "Mordechai et al (2011) Hum. Genet. 89: 438-445 PMID: 21885030"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services",
                "Emory Genetics Laboratory",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [
                    "D11S812E",
                    "AN",
                    "WAGR"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8620",
                "gene_name": "paired box 6",
                "omim_gene": [
                    "607108"
                ],
                "alias_name": [
                    "aniridia, keratitis"
                ],
                "gene_symbol": "PAX6",
                "hgnc_symbol": "PAX6",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:31806340-31839509",
                            "ensembl_id": "ENSG00000007372"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:31784779-31818062",
                            "ensembl_id": "ENSG00000007372"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "?Morning glory disc anomaly, 120430",
                "Aniridia, 106210",
                "Cataract with late-onset corneal dystrohpy, 106210",
                "Coloboma of optic nerve, 120430",
                "Coloboma, ocular, 120200",
                "Foveal hypoplasia 1, 136520",
                "Gillespie syndrome, 206700",
                "Keratitis, 148190",
                "Optic nerve hypoplasia, 165550",
                "Peters anomaly, 604229",
                "Aniridia, additional ocular abnormalities that may occur later in life include glaucoma, cataract, and corneal opacification and vascularization",
                "Optic Nerve Malformations",
                "Foveal Hypoplasia and Presenile Cataract Syndrome"
            ],
            "entity_name": "PAX6",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8850",
                "gene_name": "peroxisomal biogenesis factor 1",
                "omim_gene": [
                    "602136"
                ],
                "alias_name": null,
                "gene_symbol": "PEX1",
                "hgnc_symbol": "PEX1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:92116334-92157845",
                            "ensembl_id": "ENSG00000127980"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:92487020-92528531",
                            "ensembl_id": "ENSG00000127980"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-01-08"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Peroxisome biogenesis disorder 1A (Zellweger)",
                "Refsum disease infantile",
                "Adrenoleukodystrophy neonatal",
                "Peroxisome biogenesis disorder"
            ],
            "entity_name": "PEX1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "RNF69"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8851",
                "gene_name": "peroxisomal biogenesis factor 10",
                "omim_gene": [
                    "602859"
                ],
                "alias_name": null,
                "gene_symbol": "PEX10",
                "hgnc_symbol": "PEX10",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:2336236-2345236",
                            "ensembl_id": "ENSG00000157911"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:2403964-2413797",
                            "ensembl_id": "ENSG00000157911"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-08-05"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Peroxisome biogenesis disorder"
            ],
            "entity_name": "PEX10",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert list"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8853",
                "gene_name": "peroxisomal biogenesis factor 11 beta",
                "omim_gene": [
                    "603867"
                ],
                "alias_name": null,
                "gene_symbol": "PEX11B",
                "hgnc_symbol": "PEX11B",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:145516252-145523730",
                            "ensembl_id": "ENSG00000131779"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:145911350-145918837",
                            "ensembl_id": "ENSG00000131779"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-11-11"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Peroxisome biogenesis disorder"
            ],
            "entity_name": "PEX11B",
            "entity_type": "gene",
            "publications": [
                "Ebberink et al (2012) J Med Genet 49:307-13",
                "Gillespie et al (2016) Ophthalmology 123:217-220"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8854",
                "gene_name": "peroxisomal biogenesis factor 12",
                "omim_gene": [
                    "601758"
                ],
                "alias_name": null,
                "gene_symbol": "PEX12",
                "hgnc_symbol": "PEX12",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:33901814-33905882",
                            "ensembl_id": "ENSG00000108733"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:35574795-35578863",
                            "ensembl_id": "ENSG00000108733"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-05-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Peroxisome biogenesis disorder 3A (Zellweger)",
                "PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 3",
                "Peroxisome biogenesis disorder"
            ],
            "entity_name": "PEX12",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8855",
                "gene_name": "peroxisomal biogenesis factor 13",
                "omim_gene": [
                    "601789"
                ],
                "alias_name": null,
                "gene_symbol": "PEX13",
                "hgnc_symbol": "PEX13",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:61244360-61279125",
                            "ensembl_id": "ENSG00000162928"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "2:61017225-61051990",
                            "ensembl_id": "ENSG00000162928"
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                    }
                },
                "hgnc_date_symbol_changed": "1997-06-24"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Peroxisome biogenesis disorder 11A (Zellweger)",
                "Adrenoleukodystrophy neonatal",
                "Peroxisome biogenesis disorder"
            ],
            "entity_name": "PEX13",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert list"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8856",
                "gene_name": "peroxisomal biogenesis factor 14",
                "omim_gene": [
                    "601791"
                ],
                "alias_name": null,
                "gene_symbol": "PEX14",
                "hgnc_symbol": "PEX14",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:10532345-10690815",
                            "ensembl_id": "ENSG00000142655"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:10472288-10630758",
                            "ensembl_id": "ENSG00000142655"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-08-21"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Peroxisome biogenesis disorder"
            ],
            "entity_name": "PEX14",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8857",
                "gene_name": "peroxisomal biogenesis factor 16",
                "omim_gene": [
                    "603360"
                ],
                "alias_name": null,
                "gene_symbol": "PEX16",
                "hgnc_symbol": "PEX16",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:45931220-45940363",
                            "ensembl_id": "ENSG00000121680"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "11:45909669-45918812",
                            "ensembl_id": "ENSG00000121680"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-04-07"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Peroxisome biogenesis disorder 8A, (Zellweger)",
                "Peroxisome biogenesis disorder"
            ],
            "entity_name": "PEX16",
            "entity_type": "gene",
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            "mode_of_pathogenicity": ""
        },
        {
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            "evidence": [
                "Expert Review Green",
                "Expert list"
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                "hgnc_symbol": "PEX19",
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            "penetrance": "Complete",
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        },
        {
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                "omim_gene": [
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                    "peroxin 2"
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                "hgnc_symbol": "PEX2",
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            "penetrance": "Complete",
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                "Zellweger sydrome",
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            "entity_type": "gene",
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
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            "evidence": [
                "Expert Review Green",
                "UKGTN"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:22965",
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                "hgnc_symbol": "PEX26",
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                "hgnc_date_symbol_changed": "2003-08-05"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Adrenoleukodystrophy neonatal",
                "Peroxisome biogenesis disorder 7A (Zellweger)",
                "Refsum disease infantile",
                "Peroxisome biogenesis disorder"
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            "entity_name": "PEX26",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
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            "evidence": [
                "Expert Review Green",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8858",
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                    "603164"
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                "alias_name": null,
                "gene_symbol": "PEX3",
                "hgnc_symbol": "PEX3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                },
                "hgnc_date_symbol_changed": "1998-10-21"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Peroxisome biogenesis disorder 10A (Zellweger)",
                "confirmed DD gene for Zellweger syndrome",
                "Peroxisome biogenesis disorder"
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            "entity_name": "PEX3",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
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            "gene_data": {
                "alias": [
                    "PTS1R"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9719",
                "gene_name": "peroxisomal biogenesis factor 5",
                "omim_gene": [
                    "600414"
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                "alias_name": [
                    "peroxisomal targeting signal 1 receptor",
                    "peroxisomal import receptor 5"
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                "gene_symbol": "PEX5",
                "hgnc_symbol": "PEX5",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                    },
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                },
                "hgnc_date_symbol_changed": "2004-03-19"
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            "penetrance": "Complete",
            "phenotypes": [
                "Peroxisome biogenesis disorder 2A (Zellweger)",
                "Peroxisome biogenesis disorder 2B",
                "Rhizomelic chondrodysplasia punctata, type 5"
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            "entity_name": "PEX5",
            "entity_type": "gene",
            "publications": [
                "Baroy et al (2015) Hum Mol Genet 24(20:5845-5854",
                "Ebberink et al (2009) Hum Mutat 30:93-98"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "PXAAA1",
                    "PAF-2"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8859",
                "gene_name": "peroxisomal biogenesis factor 6",
                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "PEX6",
                "hgnc_symbol": "PEX6",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                    },
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                            "ensembl_id": "ENSG00000124587"
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                    }
                },
                "hgnc_date_symbol_changed": "1997-05-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Peroxisome biogenesis disorder 4A (Zellweger)",
                "Confirmed DD gene for ZELLWEGER SYNDROME",
                "Peroxisome biogenesis disorder"
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            "entity_name": "PEX6",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "PTS2R",
                    "RD"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8860",
                "gene_name": "peroxisomal biogenesis factor 7",
                "omim_gene": [
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                "alias_name": [
                    "Refsum disease"
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                "gene_symbol": "PEX7",
                "hgnc_symbol": "PEX7",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                    },
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                },
                "hgnc_date_symbol_changed": "1997-05-22"
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            "penetrance": "Complete",
            "phenotypes": [
                "Rhizomelic chondrodysplasia punctata type 1",
                "Confirmed DD gene for Rhizomelic chondrodysplasia punctata type 1",
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                "Peroxisome biogenesis disorder"
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            "entity_name": "PEX7",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen"
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            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9006",
                "gene_name": "paired like homeodomain 3",
                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "PITX3",
                "hgnc_symbol": "PITX3",
                "hgnc_release": "2017-11-03T00:00:00",
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                "hgnc_date_symbol_changed": "1998-06-04"
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            "penetrance": "Complete",
            "phenotypes": [
                "Anterior segment mesenchymal dysgenesis, 107250",
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                "cataract posterior polar type 4 (CTPP4)",
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            "entity_name": "PITX3",
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            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
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        {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14966",
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                "omim_gene": [
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                "gene_symbol": "PXDN",
                "hgnc_symbol": "PXDN",
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                "ensembl_genes": {
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                "hgnc_date_symbol_changed": "2005-07-19"
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            "penetrance": "Complete",
            "phenotypes": [
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            "entity_name": "PXDN",
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            "publications": [
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
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            "evidence": [
                "Expert Review Green",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14244",
                "gene_name": "RAB18, member RAS oncogene family",
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                "alias_name": null,
                "gene_symbol": "RAB18",
                "hgnc_symbol": "RAB18",
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                },
                "hgnc_date_symbol_changed": "2000-12-12"
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            "penetrance": "Complete",
            "phenotypes": [
                "Warburg micro syndrome 3",
                "Warburg Micro syndrome-3"
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            "entity_name": "RAB18",
            "entity_type": "gene",
            "publications": [
                "Handley et al (2013) Hum Mutat 34:686-96"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
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            "evidence": [
                "Expert Review Green",
                "UKGTN"
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            "gene_data": {
                "alias": [
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                    "KIAA0066",
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17063",
                "gene_name": "RAB3 GTPase activating protein catalytic subunit 1",
                "omim_gene": [
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                "gene_symbol": "RAB3GAP1",
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            "phenotypes": [
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                "Warburg Micro syndrome-1"
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            "entity_name": "RAB3GAP1",
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            "publications": [
                "Handley et al (2013) Hum Mutat 34:686-96"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
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                "Expert Review Green",
                "UKGTN"
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                "hgnc_id": "HGNC:17168",
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            "phenotypes": [
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                "Warburg micro syndrome 2",
                "Warburg Micro syndrome-2"
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            "entity_name": "RAB3GAP2",
            "entity_type": "gene",
            "publications": [
                "Handley et al (2013) Hum Mutat 34:686-96"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
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            "evidence": [
                "Expert Review Green",
                "UKGTN"
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                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10547",
                "gene_name": "sterol-C5-desaturase",
                "omim_gene": [
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                "alias_name": [
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                "hgnc_symbol": "SC5D",
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                "ensembl_genes": {
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                "hgnc_date_symbol_changed": "2013-03-04"
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            "penetrance": "Complete",
            "phenotypes": [],
            "entity_name": "SC5D",
            "entity_type": "gene",
            "publications": [
                "Rossi et al (2007) Am J Med Genet A 143A:2371-2381",
                "Gillespie et al (2014) Ophthalmology 121(11):2124-37"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN"
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            "gene_data": {
                "alias": [
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                    "ULG5"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:24624",
                "gene_name": "SIL1 nucleotide exchange factor",
                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "SIL1",
                "hgnc_symbol": "SIL1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "5:138282409-138629246",
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                "hgnc_date_symbol_changed": "2005-09-01"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Marinesco-Sjogren syndrome, 248800"
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            "entity_name": "SIL1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
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            "evidence": [
                "Expert Review Green",
                "UKGTN"
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            "gene_data": {
                "alias": [
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                    "DYT9"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11005",
                "gene_name": "solute carrier family 2 member 1",
                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "SLC2A1",
                "hgnc_symbol": "SLC2A1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "1:43391052-43424530",
                            "ensembl_id": "ENSG00000117394"
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                    },
                    "GRch38": {
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                            "location": "1:42925375-42959173",
                            "ensembl_id": "ENSG00000117394"
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                },
                "hgnc_date_symbol_changed": "1994-11-18"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Stomatin-deficient cryohydrocytosis with neurologic defects\t608885"
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            "entity_name": "SLC2A1",
            "entity_type": "gene",
            "publications": [
                "Gillespie et al (2016) Ophthalmol 123:217-220",
                "Flatt et al (2011) 118(19):5267-77"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [
                    "AT-1",
                    "AT1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:95",
                "gene_name": "solute carrier family 33 member 1",
                "omim_gene": [
                    "603690"
                ],
                "alias_name": null,
                "gene_symbol": "SLC33A1",
                "hgnc_symbol": "SLC33A1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:155538813-155572218",
                            "ensembl_id": "ENSG00000169359"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:155821024-155854429",
                            "ensembl_id": "ENSG00000169359"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2002-12-06"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Spastic paraplegia 42, autosomal dominant, 612539",
                "Congenital cataracts, hearing loss, and neurodegeneration, 614482",
                "Congenital cataracts hearing loss and neurodegeneration",
                "AUTOSOMAL-RECESSIVE DISORDER WITH CONGENITAL CATARACTS, HEARING LOSS, AND LOW SERUM COPPER AND CERULOPLASMIN"
            ],
            "entity_name": "SLC33A1",
            "entity_type": "gene",
            "publications": [
                "Huppke et al (2012) Am. J. Hum. Genet. 90: 61-68"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "FLJ13352",
                    "SRD5A2L",
                    "SRD5A2L1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25812",
                "gene_name": "steroid 5 alpha-reductase 3",
                "omim_gene": [
                    "611715"
                ],
                "alias_name": null,
                "gene_symbol": "SRD5A3",
                "hgnc_symbol": "SRD5A3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:56212276-56239263",
                            "ensembl_id": "ENSG00000128039"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:55346109-55373096",
                            "ensembl_id": "ENSG00000128039"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-11-12"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Kahrizi syndrome."
            ],
            "entity_name": "SRD5A3",
            "entity_type": "gene",
            "publications": [
                "Kahrizi et al (2011) Europ. J. Hum. Genet. 19: 115-117",
                "Najmabadi et al (2011) Nature 478:57"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "gene_data": {
                "alias": [
                    "PCTAIRE2BP"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:30831",
                "gene_name": "tudor domain containing 7",
                "omim_gene": [
                    "611258"
                ],
                "alias_name": null,
                "gene_symbol": "TDRD7",
                "hgnc_symbol": "TDRD7",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:100174232-100258407",
                            "ensembl_id": "ENSG00000196116"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:97411950-97496125",
                            "ensembl_id": "ENSG00000196116"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-04-01"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Congenital Cataract",
                "Cataract 36, 613887"
            ],
            "entity_name": "TDRD7",
            "entity_type": "gene",
            "publications": [
                "PMID: 25120344",
                "24435515",
                "Lachke et al (2011) Science 331(6024):1571-1576"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "AP-2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11742",
                "gene_name": "transcription factor AP-2 alpha",
                "omim_gene": [
                    "107580"
                ],
                "alias_name": null,
                "gene_symbol": "TFAP2A",
                "hgnc_symbol": "TFAP2A",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:10393419-10419892",
                            "ensembl_id": "ENSG00000137203"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:10393186-10419659",
                            "ensembl_id": "ENSG00000137203"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-09-12"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Branchiooculofacial syndrome"
            ],
            "entity_name": "TFAP2A",
            "entity_type": "gene",
            "publications": [
                "Gestri et al (2009) Hum Genet 126:791-803. Milunsky et al. 2008 Am J Hum Genet. 2 82(5):1171_1177. Reiber et al (2010) Am J Med Genet 152A:994-999."
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12692",
                "gene_name": "vimentin",
                "omim_gene": [
                    "193060"
                ],
                "alias_name": null,
                "gene_symbol": "VIM",
                "hgnc_symbol": "VIM",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:17270258-17279592",
                            "ensembl_id": "ENSG00000026025"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:17228259-17237593",
                            "ensembl_id": "ENSG00000026025"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Cataract 30, pulverulent, 116300"
            ],
            "entity_name": "VIM",
            "entity_type": "gene",
            "publications": [
                "PMID: 26694549",
                "PMID: 19126778 Muller et al (2009) Hum Mol Genet 18:1052-1057 - sequencing of the VIM gene in 90 individuals wuth congenital cataract, identified a E151K missense variant in one individual, which functional studies showed disrupted function",
                "PMID: 26694549 Ma et al, 2016 - novel likely pathogenic frameshift variant identified in a patient with congenital cataracts p.Val6Cysfs∗26",
                "PMID:24142690 - \"Here, we generated knock-in mice expressing vimentin that have had the serine sites phosphorylated during mitosis substituted by alanine residues. Homozygotic mice (VIM(SA/SA)) presented with microophthalmia and cataracts in the lens, whereas heterozygotic mice (VIM(WT/SA)) were indistinguishable from WT (VIM(WT/WT)) mice\". PMID: 18940912 - Vimentin-/- mice provided no evidence of an involvement of vimentin in the development of a specific disease. They therefore investigate the R113C point mutation in mice \"We demonstrate here for the first time that the expression of mutated vimentin induces a protein-stress response that contributes to disease pathology in mice, and hypothesise that vimentin mutations cause cataracts in humans.\""
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "RET1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1975",
                "gene_name": "visual system homeobox 2",
                "omim_gene": [
                    "142993"
                ],
                "alias_name": null,
                "gene_symbol": "VSX2",
                "hgnc_symbol": "VSX2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:74706175-74729441",
                            "ensembl_id": "ENSG00000119614"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "14:74239472-74262738",
                            "ensembl_id": "ENSG00000119614"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-08-21"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Microphthalmia, cataracts and iris abnormalities"
            ],
            "entity_name": "VSX2",
            "entity_type": "gene",
            "publications": [
                "Percin et al (2000) Nature Genet. 25: 397-401"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert list",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "DIDMOAD",
                    "WFS"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12762",
                "gene_name": "wolframin ER transmembrane glycoprotein",
                "omim_gene": [
                    "606201"
                ],
                "alias_name": null,
                "gene_symbol": "WFS1",
                "hgnc_symbol": "WFS1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:6271576-6304992",
                            "ensembl_id": "ENSG00000109501"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:6269849-6303265",
                            "ensembl_id": "ENSG00000109501"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1995-01-30"
            },
            "penetrance": null,
            "phenotypes": [
                "?Cataract 41, 116400"
            ],
            "entity_name": "WFS1",
            "entity_type": "gene",
            "publications": [
                "27217304",
                "21067485",
                "28468959",
                "23531866",
                "21623599",
                "23373429",
                "28271591",
                "16151413",
                "27468121"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "RECQL2",
                    "RECQ3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12791",
                "gene_name": "Werner syndrome RecQ like helicase",
                "omim_gene": [
                    "604611"
                ],
                "alias_name": null,
                "gene_symbol": "WRN",
                "hgnc_symbol": "WRN",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "8:30891317-31031285",
                            "ensembl_id": "ENSG00000165392"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "8:31033801-31173769",
                            "ensembl_id": "ENSG00000165392"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-08-21"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Werner syndrome"
            ],
            "entity_name": "WRN",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert list",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "XT-II",
                    "PXYLT2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:15517",
                "gene_name": "xylosyltransferase 2",
                "omim_gene": [
                    "608125"
                ],
                "alias_name": [
                    "protein xylosyltransferase 2"
                ],
                "gene_symbol": "XYLT2",
                "hgnc_symbol": "XYLT2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:48423453-48440499",
                            "ensembl_id": "ENSG00000015532"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:50346092-50363138",
                            "ensembl_id": "ENSG00000015532"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-04-06"
            },
            "penetrance": null,
            "phenotypes": [
                "Spondyloocular syndrome, 605822"
            ],
            "entity_name": "XYLT2",
            "entity_type": "gene",
            "publications": [
                "26987875",
                "26027496",
                "28884924",
                "30496831",
                "29136277"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "Expert list"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3091",
                "gene_name": "dual specificity tyrosine phosphorylation regulated kinase 1A",
                "omim_gene": [
                    "600855"
                ],
                "alias_name": null,
                "gene_symbol": "DYRK1A",
                "hgnc_symbol": "DYRK1A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "21:38738092-38889753",
                            "ensembl_id": "ENSG00000157540"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "21:37365790-37517450",
                            "ensembl_id": "ENSG00000157540"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-01-29"
            },
            "penetrance": null,
            "phenotypes": [
                "Mental retardation, autosomal dominant 7, 614104"
            ],
            "entity_name": "DYRK1A",
            "entity_type": "gene",
            "publications": [
                "28053047",
                "25944381"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "KIAA0838",
                    "GLS1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4331",
                "gene_name": "glutaminase",
                "omim_gene": [
                    "138280"
                ],
                "alias_name": null,
                "gene_symbol": "GLS",
                "hgnc_symbol": "GLS",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:191745553-191830278",
                            "ensembl_id": "ENSG00000115419"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:190880827-190965552",
                            "ensembl_id": "ENSG00000115419"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1989-02-07"
            },
            "penetrance": null,
            "phenotypes": [
                "?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, 618339"
            ],
            "entity_name": "GLS",
            "entity_type": "gene",
            "publications": [
                "30239721"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "watchlist"
            ],
            "evidence": [
                "Expert Review Amber",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "KIAA0545"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:23801",
                "gene_name": "signal induced proliferation associated 1 like 3",
                "omim_gene": [
                    "616655"
                ],
                "alias_name": null,
                "gene_symbol": "SIPA1L3",
                "hgnc_symbol": "SIPA1L3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:38397868-38699012",
                            "ensembl_id": "ENSG00000105738"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:37907228-38208372",
                            "ensembl_id": "ENSG00000105738"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-12-11"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "?Cataract 45"
            ],
            "entity_name": "SIPA1L3",
            "entity_type": "gene",
            "publications": [
                "25804400",
                "26231217",
                "27993984",
                "28951961"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "gene_data": {
                "alias": [
                    "DKFZP434P106",
                    "dJ965G21.2",
                    "BEM46L2",
                    "ABHD12A"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:15868",
                "gene_name": "abhydrolase domain containing 12",
                "omim_gene": [
                    "613599"
                ],
                "alias_name": null,
                "gene_symbol": "ABHD12",
                "hgnc_symbol": "ABHD12",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "20:25275379-25371619",
                            "ensembl_id": "ENSG00000100997"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "20:25294743-25390983",
                            "ensembl_id": "ENSG00000100997"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-03-10"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC)",
                "Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674"
            ],
            "entity_name": "ABHD12",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "DKFZP434K1772"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:19706",
                "gene_name": "ADAMTS like 4",
                "omim_gene": [
                    "610113"
                ],
                "alias_name": null,
                "gene_symbol": "ADAMTSL4",
                "hgnc_symbol": "ADAMTSL4",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:150521884-150533413",
                            "ensembl_id": "ENSG00000143382"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:150549369-150560937",
                            "ensembl_id": "ENSG00000143382"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-12-01"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Ectopia lentis, isolated, autosomal recessive",
                "Ectopia lentis et pupillae"
            ],
            "entity_name": "ADAMTSL4",
            "entity_type": "gene",
            "publications": [
                "Aragon-Martin et al (2010) Hum Mutat 31:E1622-E1633",
                "Neuhann (2015) Am J Hum genet 167A:2376-2381"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "MGC10612"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:23437",
                "gene_name": "aldo-keto reductase family 1 member E2",
                "omim_gene": [
                    "617451"
                ],
                "alias_name": null,
                "gene_symbol": "AKR1E2",
                "hgnc_symbol": "AKR1E2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:4828821-4890254",
                            "ensembl_id": "ENSG00000165568"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:4786629-4848062",
                            "ensembl_id": "ENSG00000165568"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2009-09-09"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "glycogen-derived 1, 5-anhydro-D-fructose accumulation, osmotic cataract"
            ],
            "entity_name": "AKR1E2",
            "entity_type": "gene",
            "publications": [
                "Aldahmesh (2012) Genet Med 14(12):955-962, PMID: 22935719"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "Unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "BETA-4"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:572",
                "gene_name": "adaptor related protein complex 4 beta 1 subunit",
                "omim_gene": [
                    "607245"
                ],
                "alias_name": [
                    "beta 4 subunit of AP-4",
                    "AP-4 complex subunit beta-1"
                ],
                "gene_symbol": "AP4B1",
                "hgnc_symbol": "AP4B1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:114437370-114447823",
                            "ensembl_id": "ENSG00000134262"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:113894748-113905201",
                            "ensembl_id": "ENSG00000134262"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2000-09-01"
            },
            "penetrance": null,
            "phenotypes": [
                "AP-4 deficiency syndrome and ocular anomalies"
            ],
            "entity_name": "AP4B1",
            "entity_type": "gene",
            "publications": [
                "29430868"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "Other"
            ],
            "gene_data": {
                "alias": [
                    "MGC39558"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:28596",
                "gene_name": "beta-1,3-N-acetylgalactosaminyltransferase 2",
                "omim_gene": [
                    "610194"
                ],
                "alias_name": null,
                "gene_symbol": "B3GALNT2",
                "hgnc_symbol": "B3GALNT2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:235613238-235667781",
                            "ensembl_id": "ENSG00000162885"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:235449923-235504481",
                            "ensembl_id": "ENSG00000162885"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-02-10"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11"
            ],
            "entity_name": "B3GALNT2",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "Other"
            ],
            "gene_data": {
                "alias": [
                    "iGNT",
                    "iGAT",
                    "iGnT",
                    "BETA3GNTI",
                    "B3GN-T1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:15685",
                "gene_name": "beta-1,4-glucuronyltransferase 1",
                "omim_gene": [
                    "605517"
                ],
                "alias_name": [
                    "N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase"
                ],
                "gene_symbol": "B4GAT1",
                "hgnc_symbol": "B4GAT1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:66112843-66115163",
                            "ensembl_id": "ENSG00000174684"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:66345372-66347692",
                            "ensembl_id": "ENSG00000174684"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2014-12-17"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13"
            ],
            "entity_name": "B4GAT1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory"
            ],
            "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": [
                "Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) -dditional features include congenital or early-onset cataracts, microcornea, hypermetrophic, and shallow anterior chamber.",
                "Best macular dystrophy, 153700Maculopathy, bull's-eyeVitelliform macular dystrophy, adult-onset, 608161Bestrophinopathy, 611809Vitreoretinochoroidopathy, 193220Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 1"
            ],
            "entity_name": "BEST1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "BUBR1",
                    "MAD3L",
                    "Bub1A",
                    "SSK1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1149",
                "gene_name": "BUB1 mitotic checkpoint serine/threonine kinase B",
                "omim_gene": [
                    "602860"
                ],
                "alias_name": null,
                "gene_symbol": "BUB1B",
                "hgnc_symbol": "BUB1B",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:40453224-40513337",
                            "ensembl_id": "ENSG00000156970"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "15:40161023-40221136",
                            "ensembl_id": "ENSG00000156970"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-03-25"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Mosaic variegated aneuploidy"
            ],
            "entity_name": "BUB1B",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11182",
                "gene_name": "calpain 15",
                "omim_gene": [
                    "603267"
                ],
                "alias_name": null,
                "gene_symbol": "CAPN15",
                "hgnc_symbol": "CAPN15",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:577717-604636",
                            "ensembl_id": "ENSG00000103326"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:527717-554636",
                            "ensembl_id": "ENSG00000103326"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2013-06-27"
            },
            "penetrance": "Complete",
            "phenotypes": [],
            "entity_name": "CAPN15",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "HIP4"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1550",
                "gene_name": "cystathionine-beta-synthase",
                "omim_gene": [
                    "613381"
                ],
                "alias_name": null,
                "gene_symbol": "CBS",
                "hgnc_symbol": "CBS",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "21:44473301-44497053",
                            "ensembl_id": "ENSG00000160200"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "21:43053191-43076943",
                            "ensembl_id": "ENSG00000160200"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Homocystinuria, AR",
                "Homocystinuria B6-responsive and nonresponsive types",
                "confirmed DD gene for CYSTATHIONINE BETA-SYNTHASE DEFICIENCY"
            ],
            "entity_name": "CBS",
            "entity_type": "gene",
            "publications": [
                "Many on HGMD"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "CDK4I",
                    "p16",
                    "INK4a",
                    "MTS1",
                    "CMM2",
                    "ARF",
                    "p19",
                    "p14",
                    "INK4",
                    "p16INK4a",
                    "p19Arf",
                    "p14ARF"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1787",
                "gene_name": "cyclin dependent kinase inhibitor 2A",
                "omim_gene": [
                    "600160"
                ],
                "alias_name": null,
                "gene_symbol": "CDKN2A",
                "hgnc_symbol": "CDKN2A",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:21967751-21995300",
                            "ensembl_id": "ENSG00000147889"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:21967753-21995301",
                            "ensembl_id": "ENSG00000147889"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-05-19"
            },
            "penetrance": "Complete",
            "phenotypes": [],
            "entity_name": "CDKN2A",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "CRYG5",
                    "CRY-g-A"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2408",
                "gene_name": "crystallin gamma A",
                "omim_gene": [
                    "123660"
                ],
                "alias_name": [
                    "gamma crystallin 5"
                ],
                "gene_symbol": "CRYGA",
                "hgnc_symbol": "CRYGA",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:209025464-209028300",
                            "ensembl_id": "ENSG00000168582"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:208160740-208163576",
                            "ensembl_id": "ENSG00000168582"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "penetrance": "Complete",
            "phenotypes": [],
            "entity_name": "CRYGA",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2409",
                "gene_name": "crystallin gamma B",
                "omim_gene": [
                    "123670"
                ],
                "alias_name": null,
                "gene_symbol": "CRYGB",
                "hgnc_symbol": "CRYGB",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:209007297-209010892",
                            "ensembl_id": "ENSG00000182187"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:208142573-208146168",
                            "ensembl_id": "ENSG00000182187"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Cataract 39, multiple types, autosomal dominant, 615188"
            ],
            "entity_name": "CRYGB",
            "entity_type": "gene",
            "publications": [
                "Alfadhli et al (2012) Mol. Vis. 18: 2931-2936",
                "Mouse mutation: Li et al (2008) Invest. Ophthal. Vis. Sci. 49: 304-309",
                "PMID: 21941057 - a SNP associated with susceptibility to cataract."
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "locus-type-pseudogene"
            ],
            "evidence": [
                "Expert Review Red",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "p1"
                ],
                "biotype": "unprocessed_pseudogene",
                "hgnc_id": "HGNC:2413",
                "gene_name": "crystallin gamma F, pseudogene",
                "omim_gene": null,
                "alias_name": null,
                "gene_symbol": "CRYGFP",
                "hgnc_symbol": "CRYGFP",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:210009965-210012411",
                            "ensembl_id": "ENSG00000232799"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:209145241-209147687",
                            "ensembl_id": "ENSG00000232799"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-12-17"
            },
            "penetrance": "Complete",
            "phenotypes": [],
            "entity_name": "CRYGFP",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [
                    "FCP1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2498",
                "gene_name": "CTD phosphatase subunit 1",
                "omim_gene": [
                    "604927"
                ],
                "alias_name": null,
                "gene_symbol": "CTDP1",
                "hgnc_symbol": "CTDP1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "18:77439801-77514510",
                            "ensembl_id": "ENSG00000060069"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "18:79679801-79756623",
                            "ensembl_id": "ENSG00000060069"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-02-09"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Congenital cataracts, facial dysmorphism, and neuropathy, 604168"
            ],
            "entity_name": "CTDP1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "Other"
            ],
            "gene_data": {
                "alias": [
                    "A3a",
                    "156DAG",
                    "AGRNR",
                    "DAG"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2666",
                "gene_name": "dystroglycan 1",
                "omim_gene": [
                    "128239"
                ],
                "alias_name": [
                    "alpha-dystroglycan",
                    "dystrophin-associated glycoprotein-1",
                    "beta-dystroglycan"
                ],
                "gene_symbol": "DAG1",
                "hgnc_symbol": "DAG1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:49506146-49573048",
                            "ensembl_id": "ENSG00000173402"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:49468703-49535618",
                            "ensembl_id": "ENSG00000173402"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-07-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9"
            ],
            "entity_name": "DAG1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "EFO2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:27230",
                "gene_name": "establishment of sister chromatid cohesion N-acetyltransferase 2",
                "omim_gene": [
                    "609353"
                ],
                "alias_name": null,
                "gene_symbol": "ESCO2",
                "hgnc_symbol": "ESCO2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "8:27629466-27670157",
                            "ensembl_id": "ENSG00000171320"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "8:27771949-27812640",
                            "ensembl_id": "ENSG00000171320"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-01-04"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Vega et al (2010) J. Med. Genet. 47: 30-37",
                "Roberts syndrome 238300"
            ],
            "entity_name": "ESCO2",
            "entity_type": "gene",
            "publications": [
                "Vega et al (2010) J. Med. Genet. 47: 30-37."
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3519",
                "gene_name": "EYA transcriptional coactivator and phosphatase 1",
                "omim_gene": [
                    "601653"
                ],
                "alias_name": null,
                "gene_symbol": "EYA1",
                "hgnc_symbol": "EYA1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "8:72109668-72274467",
                            "ensembl_id": "ENSG00000104313"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "8:71197433-71362232",
                            "ensembl_id": "ENSG00000104313"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1996-12-12"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Branchiootorenal syndrome 1, with or without cataracts, 113650",
                "Anterior segment anomalies with or without cataract, 113650",
                "Branchiootic syndrome 1, 602588",
                "Otofaciocervical syndrome, 166780"
            ],
            "entity_name": "EYA1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "MASS",
                    "OCTD",
                    "SGS"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3603",
                "gene_name": "fibrillin 1",
                "omim_gene": [
                    "134797"
                ],
                "alias_name": [
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                    "asprosin"
                ],
                "gene_symbol": "FBN1",
                "hgnc_symbol": "FBN1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                "hgnc_date_symbol_changed": "1987-09-11"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "congenital ectopia lentis",
                "Marfan syndrome",
                "Weill-Marchesani syndrome"
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            "entity_name": "FBN1",
            "entity_type": "gene",
            "publications": [
                "Aragon-Martin et al (2010) Hum Mutat 31:E1622-E1633",
                "Li et al (2004) Mol Vis 20:1017"
            ],
            "confidence_level": "1",
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            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "UKGTN"
            ],
            "gene_data": {
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                    "MDC1C"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17997",
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                "omim_gene": [
                    "606596"
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                "alias_name": null,
                "gene_symbol": "FKRP",
                "hgnc_symbol": "FKRP",
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                    }
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                "hgnc_date_symbol_changed": "2003-12-04"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Confirmed DD gene for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A5"
            ],
            "entity_name": "FKRP",
            "entity_type": "gene",
            "publications": [
                "Chiara Manzini et al (2008) Hum Mutat 29:E231-E241",
                "van Reeuwijk et al (2010) Clin genet 78:275-281"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
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                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3622",
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                "omim_gene": [
                    "607440"
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                "alias_name": null,
                "gene_symbol": "FKTN",
                "hgnc_symbol": "FKTN",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:108320411-108403399",
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                    },
                    "GRch38": {
                        "90": {
                            "location": "9:105558130-105641118",
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                "hgnc_date_symbol_changed": "2007-11-21"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Confirmed DD gene for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A4"
            ],
            "entity_name": "FKTN",
            "entity_type": "gene",
            "publications": [
                "Saito et al (2010) Am J Med Genet 92:184-190",
                "Cotarelo et al (2008) Clin Genet 73:139-145"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "TAP",
                    "TABP",
                    "ABP-278",
                    "FH1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3755",
                "gene_name": "filamin B",
                "omim_gene": [
                    "603381"
                ],
                "alias_name": [
                    "actin binding protein 278",
                    "beta filamin"
                ],
                "gene_symbol": "FLNB",
                "hgnc_symbol": "FLNB",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:57994127-58157982",
                            "ensembl_id": "ENSG00000136068"
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                    },
                    "GRch38": {
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                            "location": "3:58008400-58172251",
                            "ensembl_id": "ENSG00000136068"
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                    }
                },
                "hgnc_date_symbol_changed": "1997-06-20"
            },
            "penetrance": "Complete",
            "phenotypes": [],
            "entity_name": "FLNB",
            "entity_type": "gene",
            "publications": [
                "Steiner et al (2000) Am J Med Genet 91:131-134"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "FREAC3",
                    "ARA",
                    "IGDA",
                    "IHG1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3800",
                "gene_name": "forkhead box C1",
                "omim_gene": [
                    "601090"
                ],
                "alias_name": null,
                "gene_symbol": "FOXC1",
                "hgnc_symbol": "FOXC1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:1610681-1614127",
                            "ensembl_id": "ENSG00000054598"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "6:1609972-1613897",
                            "ensembl_id": "ENSG00000054598"
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                    }
                },
                "hgnc_date_symbol_changed": "1995-06-05"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Axenfeld-Rieger syndrome type 3"
            ],
            "entity_name": "FOXC1",
            "entity_type": "gene",
            "publications": [
                "Many for Axenfield-Rieger syndrome, Peters anomaly"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "Genesis",
                    "HFH2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3804",
                "gene_name": "forkhead box D3",
                "omim_gene": [
                    "611539"
                ],
                "alias_name": null,
                "gene_symbol": "FOXD3",
                "hgnc_symbol": "FOXD3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:63788730-63790797",
                            "ensembl_id": "ENSG00000187140"
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                    },
                    "GRch38": {
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                    }
                },
                "hgnc_date_symbol_changed": "1999-12-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Anterior segment dysgenesis, Peter’s anomaly"
            ],
            "entity_name": "FOXD3",
            "entity_type": "gene",
            "publications": [
                "Kloss et al (2012) Mol Vis 18:1740-9"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "Unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "CD344"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4042",
                "gene_name": "frizzled class receptor 4",
                "omim_gene": [
                    "604579"
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                "alias_name": null,
                "gene_symbol": "FZD4",
                "hgnc_symbol": "FZD4",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:86656721-86666433",
                            "ensembl_id": "ENSG00000174804"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:86945679-86955391",
                            "ensembl_id": "ENSG00000174804"
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                },
                "hgnc_date_symbol_changed": "1998-09-17"
            },
            "penetrance": "Complete",
            "phenotypes": [],
            "entity_name": "FZD4",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [
                    "HSS",
                    "ERV1",
                    "ALR",
                    "HERV1",
                    "HPO1",
                    "HPO2"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4236",
                "gene_name": "growth factor, augmenter of liver regeneration",
                "omim_gene": [
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                ],
                "alias_name": [
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                "gene_symbol": "GFER",
                "hgnc_symbol": "GFER",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:2034208-2037750",
                            "ensembl_id": "ENSG00000127554"
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                    },
                    "GRch38": {
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                            "location": "16:1984207-1987749",
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                },
                "hgnc_date_symbol_changed": "1997-03-19"
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            "penetrance": "Complete",
            "phenotypes": [
                "Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076"
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            "entity_name": "GFER",
            "entity_type": "gene",
            "publications": [
                "Di Fonzo et al (2009) Am J Hum Genet 84:594-604"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
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            "evidence": [
                "Expert Review Red",
                "UKGTN"
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            "gene_data": {
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                    "ODOD",
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4274",
                "gene_name": "gap junction protein alpha 1",
                "omim_gene": [
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                "alias_name": [
                    "oculodentodigital dysplasia (syndactyly type III)",
                    "connexin 43"
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                "gene_symbol": "GJA1",
                "hgnc_symbol": "GJA1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "6:121756838-121770873",
                            "ensembl_id": "ENSG00000152661"
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                    },
                    "GRch38": {
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                            "location": "6:121435692-121449727",
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                "hgnc_date_symbol_changed": "1990-08-03"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Oculodentodigital Dysplasia"
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            "entity_name": "GJA1",
            "entity_type": "gene",
            "publications": [
                "Paznekas et al (2009) Hum Mutat30:724-733"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17495",
                "gene_name": "gap junction protein gamma 3",
                "omim_gene": [
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                "alias_name": [
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                "gene_symbol": "GJC3",
                "hgnc_symbol": "GJC3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "7:99520892-99527243",
                            "ensembl_id": "ENSG00000176402"
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                    "GRch38": {
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                            "location": "7:99923269-99929620",
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                "hgnc_date_symbol_changed": "2007-11-06"
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            "penetrance": "Complete",
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            "entity_type": "gene",
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            "confidence_level": "1",
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            "mode_of_pathogenicity": ""
        },
        {
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            "evidence": [
                "Expert Review Red",
                "UKGTN"
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            "gene_data": {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:33251",
                "gene_name": "gap junction protein epsilon 1",
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                "alias_name": null,
                "gene_symbol": "GJE1",
                "hgnc_symbol": "GJE1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "ensembl_id": "ENSG00000203733"
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                    },
                    "GRch38": {
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                            "location": "6:142133090-142135151",
                            "ensembl_id": "ENSG00000203733"
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                "hgnc_date_symbol_changed": "2007-11-06"
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            "penetrance": "Complete",
            "phenotypes": [],
            "entity_name": "GJE1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "Other"
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            "gene_data": {
                "alias": [
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:22932",
                "gene_name": "GDP-mannose pyrophosphorylase B",
                "omim_gene": [
                    "615320"
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                "alias_name": [
                    "mannose-1-phosphate guanyltransferase beta"
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                "gene_symbol": "GMPPB",
                "hgnc_symbol": "GMPPB",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "3:49754277-49761384",
                            "ensembl_id": "ENSG00000173540"
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                    },
                    "GRch38": {
                        "90": {
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                            "ensembl_id": "ENSG00000173540"
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                    }
                },
                "hgnc_date_symbol_changed": "2005-01-10"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14"
            ],
            "entity_name": "GMPPB",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "UKGTN"
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            "gene_data": {
                "alias": [
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                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4837",
                "gene_name": "holocytochrome c synthase",
                "omim_gene": [
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                "alias_name": [
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                "gene_symbol": "HCCS",
                "hgnc_symbol": "HCCS",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "X:11129421-11141198",
                            "ensembl_id": "ENSG00000004961"
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                    },
                    "GRch38": {
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                            "ensembl_id": "ENSG00000004961"
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                },
                "hgnc_date_symbol_changed": "1995-09-20"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Is a confirmed DD gene for MICROPHTHALMIA SYNDROMIC TYPE 7",
                "Linear skin defects with multiple congenital anomalies 1, 309801"
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            "entity_name": "HCCS",
            "entity_type": "gene",
            "publications": [
                "van Rahden et al (2014) Orphanet J Rare Dis 9:53",
                "Wimplinger et al (2006) Am J Hum Genet 79:878."
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            "confidence_level": "1",
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
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        {
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            "evidence": [
                "Expert Review Red",
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            "gene_data": {
                "alias": [
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                    "Nip"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:37276",
                "gene_name": "isoprenoid synthase domain containing",
                "omim_gene": [
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                "alias_name": [
                    "notch1-induced protein",
                    "4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis)"
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                "hgnc_symbol": "ISPD",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                        "82": {
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                    },
                    "GRch38": {
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                    }
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                "hgnc_date_symbol_changed": "2009-10-02"
            },
            "penetrance": "Complete",
            "phenotypes": [
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        },
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                "Expert list"
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            "penetrance": null,
            "phenotypes": [
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            "entity_type": "gene",
            "publications": [
                "29290337",
                "30906834"
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            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
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            "gene_data": {
                "alias": [
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6511",
                "gene_name": "LARGE xylosyl- and glucuronyltransferase 1",
                "omim_gene": [
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                "alias_name": [
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                "gene_symbol": "LARGE1",
                "hgnc_symbol": "LARGE1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                        "82": {
                            "location": "22:33558212-34318829",
                            "ensembl_id": "ENSG00000133424"
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        {
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        {
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                "UKGTN"
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                "hgnc_date_symbol_changed": "1998-02-11"
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                "Confirmed DD gene for Nail-patella syndrome"
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            "entity_name": "LMX1B",
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        {
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        {
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        {
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                "hgnc_date_symbol_changed": "1995-05-11"
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            "penetrance": "Complete",
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        {
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                "UKGTN"
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            "penetrance": "Complete",
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        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "Expert list"
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                "alias": [
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6824",
                "gene_name": "mannosidase alpha class 2A member 1",
                "omim_gene": [
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                "alias_name": [
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                "gene_symbol": "MAN2A1",
                "hgnc_symbol": "MAN2A1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "5:109025067-109205326",
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                "hgnc_date_symbol_changed": "1993-11-01"
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            "penetrance": "Complete",
            "phenotypes": [
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        {
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            "phenotypes": [
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            "entity_name": "MFSD6L",
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        {
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            "evidence": [
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                "omim_gene": [
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                "alias_name": null,
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                "hgnc_symbol": "MIPEP",
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                            "location": "13:24304328-24463558",
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            "entity_name": "MIPEP",
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        {
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                "alias": [],
                "biotype": "protein_coding",
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                "hgnc_symbol": "MMP1",
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                "ensembl_genes": {
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                            "ensembl_id": "ENSG00000196611"
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                    "GRch38": {
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                "hgnc_date_symbol_changed": "1986-01-01"
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            "penetrance": "Complete",
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            "entity_name": "MMP1",
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                            "location": "3:110788918-110994410",
                            "ensembl_id": "ENSG00000177707"
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                "hgnc_date_symbol_changed": "2016-02-12"
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            "penetrance": "Complete",
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                "Lachke et al (2012) Hum Genet 131:235-250"
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            "confidence_level": "1",
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        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
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            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8522",
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                "alias_name": null,
                "gene_symbol": "OTX2",
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            "penetrance": "Complete",
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            "entity_name": "OTX2",
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            "confidence_level": "1",
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        {
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                "hgnc_date_symbol_changed": "2004-07-26"
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            "penetrance": "Complete",
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            "mode_of_inheritance": "Unknown",
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        {
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            "evidence": [
                "Expert Review Red",
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            "gene_data": {
                "alias": [
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25902",
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        {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:26267",
                "gene_name": "protein-O-mannose kinase",
                "omim_gene": [
                    "615247"
                ],
                "alias_name": null,
                "gene_symbol": "POMK",
                "hgnc_symbol": "POMK",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "8:42948658-42978577",
                            "ensembl_id": "ENSG00000185900"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "8:43093506-43123434",
                            "ensembl_id": "ENSG00000185900"
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                    }
                },
                "hgnc_date_symbol_changed": "2013-08-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12"
            ],
            "entity_name": "POMK",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "LGMD2K"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9202",
                "gene_name": "protein O-mannosyltransferase 1",
                "omim_gene": [
                    "607423"
                ],
                "alias_name": [
                    "dolichyl-phosphate-mannose-protein mannosyltransferase"
                ],
                "gene_symbol": "POMT1",
                "hgnc_symbol": "POMT1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:134378289-134399193",
                            "ensembl_id": "ENSG00000130714"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "9:131502902-131523806",
                            "ensembl_id": "ENSG00000130714"
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                    }
                },
                "hgnc_date_symbol_changed": "1999-06-25"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A1",
                "muscular dystrophy-dystroglycanopathy (MDDG)"
            ],
            "entity_name": "POMT1",
            "entity_type": "gene",
            "publications": [
                "Chiara Manzini et al (2008) Hum Mutat 29:E231-E241"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "LGMD2N"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:19743",
                "gene_name": "protein O-mannosyltransferase 2",
                "omim_gene": [
                    "607439"
                ],
                "alias_name": [
                    "Dolichyl-phosphate-mannose--protein mannosyltransferase"
                ],
                "gene_symbol": "POMT2",
                "hgnc_symbol": "POMT2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:77741299-77787227",
                            "ensembl_id": "ENSG00000009830"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "14:77274956-77320884",
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                    }
                },
                "hgnc_date_symbol_changed": "2003-01-17"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A2",
                "muscular dystrophy-dystroglycanopathy (MDDG)"
            ],
            "entity_name": "POMT2",
            "entity_type": "gene",
            "publications": [
                "Godfrey et al (2007) Brain 130:2725-35",
                "Chiara Manzini et al (2008) Hum Mutat 29:E231-E241"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "KIAA1620"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13797",
                "gene_name": "periaxin",
                "omim_gene": [
                    "605725"
                ],
                "alias_name": null,
                "gene_symbol": "PRX",
                "hgnc_symbol": "PRX",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:40899675-40919273",
                            "ensembl_id": "ENSG00000105227"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "19:40393768-40413366",
                            "ensembl_id": "ENSG00000105227"
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                    }
                },
                "hgnc_date_symbol_changed": "2001-02-15"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Congenital cataract"
            ],
            "entity_name": "PRX",
            "entity_type": "gene",
            "publications": [
                "27081207"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "BCNS"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9585",
                "gene_name": "patched 1",
                "omim_gene": [
                    "601309"
                ],
                "alias_name": null,
                "gene_symbol": "PTCH1",
                "hgnc_symbol": "PTCH1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:98205262-98279339",
                            "ensembl_id": "ENSG00000185920"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:95442980-95517057",
                            "ensembl_id": "ENSG00000185920"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-09-26"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "BASAL CELL NEVUS SYNDROME"
            ],
            "entity_name": "PTCH1",
            "entity_type": "gene",
            "publications": [
                "Chassaing et al (2016) Genome Res. 26: 474-485"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "RecQ4"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9949",
                "gene_name": "RecQ like helicase 4",
                "omim_gene": [
                    "603780"
                ],
                "alias_name": null,
                "gene_symbol": "RECQL4",
                "hgnc_symbol": "RECQL4",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "8:145736667-145743229",
                            "ensembl_id": "ENSG00000160957"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "8:144511288-144517845",
                            "ensembl_id": "ENSG00000160957"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2014-03-07"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Rothmund-Thomson syndrome, 268400",
                "RAPADILINO syndrome, 266280",
                "Baller-Gerold syndrome, 218600",
                "Rothmund-Thomson syndrome"
            ],
            "entity_name": "RECQL4",
            "entity_type": "gene",
            "publications": [
                "Wang et al (2001) Am J Med Genet 102:11-17",
                "Wang et al (2003) J. Nat. Cancer Inst. 95: 669-674"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "founder-effect"
            ],
            "evidence": [
                "Expert Review Red",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "bA207C16.1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17686",
                "gene_name": "RIC1 homolog, RAB6A GEF complex partner 1",
                "omim_gene": [
                    "610354"
                ],
                "alias_name": null,
                "gene_symbol": "RIC1",
                "hgnc_symbol": "RIC1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:5629025-5776557",
                            "ensembl_id": "ENSG00000107036"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:5629025-5776557",
                            "ensembl_id": "ENSG00000107036"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2014-07-23"
            },
            "penetrance": null,
            "phenotypes": [
                "Pediatric posterior lenticonus cataract and global developmental delay"
            ],
            "entity_name": "RIC1",
            "entity_type": "gene",
            "publications": [
                "27878435"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "FLJ11218",
                    "renalase"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25641",
                "gene_name": "renalase, FAD dependent amine oxidase",
                "omim_gene": [
                    "609360"
                ],
                "alias_name": null,
                "gene_symbol": "RNLS",
                "hgnc_symbol": "RNLS",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:90033621-90344287",
                            "ensembl_id": "ENSG00000184719"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:88273864-88584530",
                            "ensembl_id": "ENSG00000184719"
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                    }
                },
                "hgnc_date_symbol_changed": "2009-04-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Congenital cataract, autosomal recessive"
            ],
            "entity_name": "RNLS",
            "entity_type": "gene",
            "publications": [
                "22935719"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10701",
                "gene_name": "Sec23 homolog A, coat complex II component",
                "omim_gene": [
                    "610511"
                ],
                "alias_name": null,
                "gene_symbol": "SEC23A",
                "hgnc_symbol": "SEC23A",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:39501123-39578850",
                            "ensembl_id": "ENSG00000100934"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "14:39031919-39109646",
                            "ensembl_id": "ENSG00000100934"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2000-01-07"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Craniolenticulosutural dysplasia",
                "Cranio-lenticulo-sutural dysplasia"
            ],
            "entity_name": "SEC23A",
            "entity_type": "gene",
            "publications": [
                "PMID: 21039434",
                "16980979",
                "Boyadjiev et al (2006) Nature Genet. 38: 1192-1197",
                "Boyadjiev et al (2011) Clin. Genet. 80: 169-176."
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10889",
                "gene_name": "SIX homeobox 3",
                "omim_gene": [
                    "603714"
                ],
                "alias_name": null,
                "gene_symbol": "SIX3",
                "hgnc_symbol": "SIX3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:45168902-45173216",
                            "ensembl_id": "ENSG00000138083"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:44941898-44946077",
                            "ensembl_id": "ENSG00000138083"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-04-21"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Holoprosencephaly-2",
                "Schizencephaly"
            ],
            "entity_name": "SIX3",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10891",
                "gene_name": "SIX homeobox 5",
                "omim_gene": [
                    "600963"
                ],
                "alias_name": null,
                "gene_symbol": "SIX5",
                "hgnc_symbol": "SIX5",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:46268043-46272484",
                            "ensembl_id": "ENSG00000177045"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:45764785-45769226",
                            "ensembl_id": "ENSG00000177045"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-05-29"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Broanchiootorenal syndrome"
            ],
            "entity_name": "SIX5",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [
                    "Six9"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10892",
                "gene_name": "SIX homeobox 6",
                "omim_gene": [
                    "606326"
                ],
                "alias_name": null,
                "gene_symbol": "SIX6",
                "hgnc_symbol": "SIX6",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:60975669-60979568",
                            "ensembl_id": "ENSG00000184302"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "14:60508951-60512850",
                            "ensembl_id": "ENSG00000184302"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-04-21"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Microphthalmia with cataract 2, 212550"
            ],
            "entity_name": "SIX6",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [
                    "MCT12"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:23094",
                "gene_name": "solute carrier family 16 member 12",
                "omim_gene": [
                    "611910"
                ],
                "alias_name": [
                    "monocarboxylic acid transporter 12"
                ],
                "gene_symbol": "SLC16A12",
                "hgnc_symbol": "SLC16A12",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:91190051-91316398",
                            "ensembl_id": "ENSG00000152779"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:89430299-89556641",
                            "ensembl_id": "ENSG00000152779"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-09-24"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Cataract, juvenile, with microcornea and glucosuria, 612018"
            ],
            "entity_name": "SLC16A12",
            "entity_type": "gene",
            "publications": [
                "Kloeckener-Gruissem et al (2008) Am J Hum Genet 82:772-779 - a nonsense variant in SLC16A12 was identified in a Swiss family with autosomal dominant juvenile cataract, microcornea, and renal glucosuria. High SLC16A12 transcript expression levels in the eye and kidney was observed",
                "Functional study: Castorino et al (2011) IOVS 52:6774 PMID: 21778275 - reports the variant causes a defect in protein trafficking",
                "A 5'UTR SNP was identified in one patient with age-related cataract, and caused increased expression in luciferase assays PMID: 20181839"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": "Other - please provide details in the comments"
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "UKGTN"
            ],
            "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": {
                        "82": {
                            "location": "3:181429714-181432221",
                            "ensembl_id": "ENSG00000181449"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:181711924-181714436",
                            "ensembl_id": "ENSG00000181449"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-11-30"
            },
            "penetrance": "Complete",
            "phenotypes": [],
            "entity_name": "SOX2",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "SREBP2",
                    "bHLHd2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11290",
                "gene_name": "sterol regulatory element binding transcription factor 2",
                "omim_gene": [
                    "600481"
                ],
                "alias_name": null,
                "gene_symbol": "SREBF2",
                "hgnc_symbol": "SREBF2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "22:42229109-42303312",
                            "ensembl_id": "ENSG00000198911"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "22:41833079-41907308",
                            "ensembl_id": "ENSG00000198911"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-11-23"
            },
            "penetrance": "Complete",
            "phenotypes": [],
            "entity_name": "SREBF2",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "TAFI48",
                    "SL1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11532",
                "gene_name": "TATA-box binding protein associated factor, RNA polymerase I subunit A",
                "omim_gene": [
                    "604903"
                ],
                "alias_name": null,
                "gene_symbol": "TAF1A",
                "hgnc_symbol": "TAF1A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:222731244-222763275",
                            "ensembl_id": "ENSG00000143498"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:222557902-222589933",
                            "ensembl_id": "ENSG00000143498"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-01-18"
            },
            "penetrance": null,
            "phenotypes": [
                "Congenital cataract and global developmental delay"
            ],
            "entity_name": "TAF1A",
            "entity_type": "gene",
            "publications": [
                "27878435"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "FLJ90013"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:26887",
                "gene_name": "transmembrane anterior posterior transformation 1",
                "omim_gene": [
                    "612758"
                ],
                "alias_name": null,
                "gene_symbol": "TAPT1",
                "hgnc_symbol": "TAPT1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:16162128-16229033",
                            "ensembl_id": "ENSG00000169762"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:16160505-16227410",
                            "ensembl_id": "ENSG00000169762"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-02-02"
            },
            "penetrance": null,
            "phenotypes": [
                "Pediatric posterior lenticonus cataract"
            ],
            "entity_name": "TAPT1",
            "entity_type": "gene",
            "publications": [
                "27878435"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "Expert list"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:33227",
                "gene_name": "transmembrane protein 114",
                "omim_gene": [
                    "611579"
                ],
                "alias_name": null,
                "gene_symbol": "TMEM114",
                "hgnc_symbol": "TMEM114",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:8619502-8622304",
                            "ensembl_id": "ENSG00000232258"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:8537605-8590193",
                            "ensembl_id": "ENSG00000232258"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-08-01"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Cataract and microphthalmia"
            ],
            "entity_name": "TMEM114",
            "entity_type": "gene",
            "publications": [
                "PMID: 17492639 Jamieson et al (2007) Hum Mutat 28:968-977 - original report of a balanced translocation which involved the TMEM114 gene associated with congenital/juvenile cataracts in a family pedigree. They also report identifying heterozygous missense variants in several other cases, however these were found in healthy sibling and mother: \"The I35T and F106L variants were in conserved amino acids in the first predicted protein loop outside the membrane (Fig. 3A and B). These mutations were absent in 200 normal control chromosomes as well as 129 other congenital cataract patients. Nevertheless, these mutations were also detected in a heterozygous state in the DNA from the patients’ apparently healthy sibling and mother, respectively. One sequence variant, c.440C4T, p.A147V, was a polymorphism, which was found three times in the cohort and was not present in all affected individuals in a familial case.\"",
                "PMID: 24357539 Gai et al, (2014) - report a deletion of the TMEM114 gene in a boy and father without cataracts, and summarise further database entries of deletions which have also not reported a cataract phenotype. They highlight that either non-penetrance, or other factors are causal in the previous published report that associated variants in this gene with cataract."
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "new-gene-name"
            ],
            "evidence": [
                "Expert Review Red",
                "Other"
            ],
            "gene_data": {
                "alias": [
                    "HP10481"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13530",
                "gene_name": "transmembrane protein 5",
                "omim_gene": [
                    "605862"
                ],
                "alias_name": null,
                "gene_symbol": "TMEM5",
                "hgnc_symbol": "TMEM5",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:64173583-64203338",
                            "ensembl_id": "ENSG00000118600"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:63779803-63809558",
                            "ensembl_id": "ENSG00000118600"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2000-09-20"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10"
            ],
            "entity_name": "TMEM5",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "FLJ20533"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:26050",
                "gene_name": "transmembrane protein 70",
                "omim_gene": [
                    "612418"
                ],
                "alias_name": null,
                "gene_symbol": "TMEM70",
                "hgnc_symbol": "TMEM70",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "8:74884672-74895018",
                            "ensembl_id": "ENSG00000175606"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "8:73972437-73982783",
                            "ensembl_id": "ENSG00000175606"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-08-26"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Congenital cataract, neonatal lactic acidosis, cardiomyopathy, encephalomyopathy",
                "Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2"
            ],
            "entity_name": "TMEM70",
            "entity_type": "gene",
            "publications": [
                "Atay et al (2013) Gene 515:197-9 (PMID: 23235116)",
                "Spiegel et al(2011) J. Med. Genet. 48: 177-182 (PMID: 21147908)"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        }
    ],
    "stats": {
        "number_of_strs": 0,
        "number_of_genes": 172,
        "number_of_regions": 0
    },
    "types": [
        {
            "name": "Rare Disease 100K",
            "slug": "rare-disease-100k",
            "description": "Rare Disease 100K"
        },
        {
            "name": "GMS Rare Disease Virtual",
            "slug": "gms-rare-disease-virtual",
            "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
        },
        {
            "name": "GMS signed-off",
            "slug": "gms-signed-off",
            "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
        }
    ],
    "status": "public",
    "hash_id": "553f979fbb5a1616e5ed45f8",
    "regions": [],
    "version": "2.0",
    "disease_group": "Ophthalmological disorders",
    "version_created": "2019-10-02T14:52:22.701027Z",
    "disease_sub_group": "Anterior segment abnormalities",
    "relevant_disorders": [
        "R31"
    ]
}