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                "gene_name": "steroid sulfatase",
                "omim_gene": [
                    "300747"
                ],
                "alias_name": [
                    "arylsulfatase C",
                    "steryl-sulfatase"
                ],
                "gene_symbol": "STS",
                "hgnc_symbol": "STS",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:7137497-7272851",
                            "ensembl_id": "ENSG00000101846"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:7219456-7354810",
                            "ensembl_id": "ENSG00000101846"
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                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "penetrance": null,
            "phenotypes": [
                "Ichthyosis, X-linked"
            ],
            "transcript": null,
            "entity_name": "STS",
            "entity_type": "gene",
            "publications": [
                "1539590",
                "3169744",
                "9252398"
            ],
            "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",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
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                    "GA733-1",
                    "EGP-1"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11530",
                "gene_name": "tumor associated calcium signal transducer 2",
                "omim_gene": [
                    "137290"
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                "alias_name": null,
                "gene_symbol": "TACSTD2",
                "hgnc_symbol": "TACSTD2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:59041099-59043166",
                            "ensembl_id": "ENSG00000184292"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "1:58575423-58577773",
                            "ensembl_id": "ENSG00000184292"
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                    }
                },
                "hgnc_date_symbol_changed": "1989-11-20"
            },
            "penetrance": null,
            "phenotypes": [
                "Corneal dystrophy, gelatinous drop-like 204870"
            ],
            "transcript": null,
            "entity_name": "TACSTD2",
            "entity_type": "gene",
            "publications": [
                "17898270",
                "10192395"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "STR"
            ],
            "evidence": [
                "Expert Review Green",
                "Expert list"
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            "gene_data": {
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                    "SEF2-1B",
                    "ITF2",
                    "bHLHb19",
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11634",
                "gene_name": "transcription factor 4",
                "omim_gene": [
                    "602272"
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                "alias_name": null,
                "gene_symbol": "TCF4",
                "hgnc_symbol": "TCF4",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "18:52889562-53332018",
                            "ensembl_id": "ENSG00000196628"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "18:55222331-55664787",
                            "ensembl_id": "ENSG00000196628"
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                    }
                },
                "hgnc_date_symbol_changed": "1990-10-16"
            },
            "penetrance": null,
            "phenotypes": [
                "Corneal dystrophy, Fuchs endothelial, 3, 613267"
            ],
            "transcript": null,
            "entity_name": "TCF4",
            "entity_type": "gene",
            "publications": [
                "29526280",
                "26401622"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": null
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "BIGH3",
                    "CDB1",
                    "CDGG1"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11771",
                "gene_name": "transforming growth factor beta induced",
                "omim_gene": [
                    "601692"
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                "alias_name": null,
                "gene_symbol": "TGFBI",
                "hgnc_symbol": "TGFBI",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:135364584-135399507",
                            "ensembl_id": "ENSG00000120708"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "5:136028895-136063818",
                            "ensembl_id": "ENSG00000120708"
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                    }
                },
                "hgnc_date_symbol_changed": "1995-07-18"
            },
            "penetrance": null,
            "phenotypes": [
                "Corneal dystrophy, Groenouw type I 121900",
                "Corneal dystrophy, Avellino type 607541",
                "Corneal dystrophy, Thiel-Behnke type 602082",
                "Corneal dystrophy, lattice type I 122200",
                "Corneal dystrophy, Reis-Bucklers type 608470",
                "Corneal dystrophy, epithelial basement membrane 121820",
                "Corneal dystrophy, lattice type IIIA 608471"
            ],
            "transcript": null,
            "entity_name": "TGFBI",
            "entity_type": "gene",
            "publications": [
                "17962451",
                "23169578",
                "17668063"
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            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "TERE1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:30791",
                "gene_name": "UbiA prenyltransferase domain containing 1",
                "omim_gene": [
                    "611632"
                ],
                "alias_name": [
                    "transitional epithelia response protein"
                ],
                "gene_symbol": "UBIAD1",
                "hgnc_symbol": "UBIAD1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:11333263-11356106",
                            "ensembl_id": "ENSG00000120942"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "1:11273206-11296049",
                            "ensembl_id": "ENSG00000120942"
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                    }
                },
                "hgnc_date_symbol_changed": "2005-07-26"
            },
            "penetrance": null,
            "phenotypes": [
                "Corneal dystrophy, Schnyder type 121800"
            ],
            "transcript": null,
            "entity_name": "UBIAD1",
            "entity_type": "gene",
            "publications": [
                "17962451",
                "18176953",
                "17668063"
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            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "BZP",
                    "ZEB",
                    "AREB6",
                    "NIL-2-A",
                    "Zfhep",
                    "Zfhx1a",
                    "FECD6"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11642",
                "gene_name": "zinc finger E-box binding homeobox 1",
                "omim_gene": [
                    "189909"
                ],
                "alias_name": null,
                "gene_symbol": "ZEB1",
                "hgnc_symbol": "ZEB1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:31607424-31818742",
                            "ensembl_id": "ENSG00000148516"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:31318495-31529814",
                            "ensembl_id": "ENSG00000148516"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-02-15"
            },
            "penetrance": null,
            "phenotypes": [
                "Corneal dystrophy, posterior polymorphous, 3 609141",
                "Corneal dystrophy, Fuchs endothelial, 6 613270"
            ],
            "transcript": null,
            "entity_name": "ZEB1",
            "entity_type": "gene",
            "publications": [
                "2003649",
                "16252232"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "KIAA1858"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:23216",
                "gene_name": "zinc finger protein 469",
                "omim_gene": [
                    "612078"
                ],
                "alias_name": null,
                "gene_symbol": "ZNF469",
                "hgnc_symbol": "ZNF469",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:88493879-88507165",
                            "ensembl_id": "ENSG00000225614"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:88427471-88440757",
                            "ensembl_id": "ENSG00000225614"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-10-15"
            },
            "penetrance": null,
            "phenotypes": [
                "Brittle cornea syndrome 1 229200"
            ],
            "transcript": null,
            "entity_name": "ZNF469",
            "entity_type": "gene",
            "publications": [
                "20938016",
                "19661234",
                "18452888"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        }
    ],
    "stats": {
        "number_of_strs": 0,
        "number_of_genes": 22,
        "number_of_regions": 0
    },
    "types": [
        {
            "name": "GMS Rare Disease Virtual",
            "slug": "gms-rare-disease-virtual",
            "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
        },
        {
            "name": "GMS Rare Disease",
            "slug": "gms-rare-disease",
            "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
        },
        {
            "name": "GMS signed-off",
            "slug": "gms-signed-off",
            "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
        }
    ],
    "status": "public",
    "hash_id": null,
    "regions": [],
    "version": "1.2",
    "disease_group": "",
    "version_created": "2020-02-19T14:27:47.953837Z",
    "disease_sub_group": "",
    "relevant_disorders": [
        "R262"
    ],
    "signed_off": "2020-02-19"
}