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    "name": "Arrhythmogenic cardiomyopathy",
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                "Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis (615821)"
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                "gene_symbol": "CAVIN4",
                "hgnc_symbol": "CAVIN4",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:103340361-103350188",
                            "ensembl_id": "ENSG00000170681"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:100578079-100587906",
                            "ensembl_id": "ENSG00000170681"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2017-03-24"
            },
            "penetrance": null,
            "phenotypes": [],
            "transcript": null,
            "entity_name": "CAVIN4",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "Unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "South West GLH",
                "Expert Review Red",
                "Radboud University Medical Center, Nijmegen",
                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "VR22",
                    "MGC26194"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2511",
                "gene_name": "catenin alpha 3",
                "omim_gene": [
                    "607667"
                ],
                "alias_name": [
                    "alpha-T-catenin"
                ],
                "gene_symbol": "CTNNA3",
                "hgnc_symbol": "CTNNA3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:67672276-69455927",
                            "ensembl_id": "ENSG00000183230"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:65912518-67696169",
                            "ensembl_id": "ENSG00000183230"
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                    }
                },
                "hgnc_date_symbol_changed": "2000-03-29"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Arrhythmogenic right ventricular dysplasia, familial, 13,"
            ],
            "transcript": null,
            "entity_name": "CTNNA3",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "South West GLH",
                "Expert Review Red",
                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "PDLIM6",
                    "KIAA0613",
                    "ZASP"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:15710",
                "gene_name": "LIM domain binding 3",
                "omim_gene": [
                    "605906"
                ],
                "alias_name": [
                    "cypher",
                    "oracle",
                    "Z-band alternatively spliced PDZ motif protein"
                ],
                "gene_symbol": "LDB3",
                "hgnc_symbol": "LDB3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:88428206-88495825",
                            "ensembl_id": "ENSG00000122367"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "10:86668449-86736068",
                            "ensembl_id": "ENSG00000122367"
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                    }
                },
                "hgnc_date_symbol_changed": "2001-12-04"
            },
            "penetrance": "Complete",
            "phenotypes": [],
            "transcript": null,
            "entity_name": "LDB3",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "London South GLH"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:27424",
                "gene_name": "RNA binding motif protein 20",
                "omim_gene": [
                    "613171"
                ],
                "alias_name": null,
                "gene_symbol": "RBM20",
                "hgnc_symbol": "RBM20",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:112404155-112599227",
                            "ensembl_id": "ENSG00000203867"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:110644397-110839469",
                            "ensembl_id": "ENSG00000203867"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-04-07"
            },
            "penetrance": null,
            "phenotypes": [
                "Cardiomyopathy, dilated, 1DD 613172"
            ],
            "transcript": null,
            "entity_name": "RBM20",
            "entity_type": "gene",
            "publications": [
                "29650543",
                "22466703",
                "22561820",
                "30482687"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "South West GLH",
                "London South GLH",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "Nav1.5",
                    "LQT3",
                    "HB1",
                    "HBBD",
                    "PFHB1",
                    "IVF",
                    "HB2",
                    "HH1",
                    "SSS1",
                    "CDCD2",
                    "CMPD2",
                    "ICCD"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10593",
                "gene_name": "sodium voltage-gated channel alpha subunit 5",
                "omim_gene": [
                    "600163"
                ],
                "alias_name": [
                    "long QT syndrome 3"
                ],
                "gene_symbol": "SCN5A",
                "hgnc_symbol": "SCN5A",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:38589548-38691164",
                            "ensembl_id": "ENSG00000183873"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "3:38548057-38649673",
                            "ensembl_id": "ENSG00000183873"
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                    }
                },
                "hgnc_date_symbol_changed": "1992-04-10"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Arrhythmogenic right ventricular cardiomyopathy",
                "Long QT syndrome",
                "Brugada syndrome",
                "Dilated cardiomyopathy",
                "Arrhythmogenic right ventricular cardiomyopathy"
            ],
            "transcript": null,
            "entity_name": "SCN5A",
            "entity_type": "gene",
            "publications": [
                "24317018",
                "doi:10.​1007/​s12265-016-9673-5",
                "26916278",
                "28069705"
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            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "South West GLH",
                "London South GLH",
                "Expert Review Red",
                "Expert list",
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11769",
                "gene_name": "transforming growth factor beta 3",
                "omim_gene": [
                    "190230"
                ],
                "alias_name": [
                    "prepro-transforming growth factor beta-3"
                ],
                "gene_symbol": "TGFB3",
                "hgnc_symbol": "TGFB3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:76424442-76449334",
                            "ensembl_id": "ENSG00000119699"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "14:75958099-75982991",
                            "ensembl_id": "ENSG00000119699"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1989-05-10"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Arrhythmogenic right ventricular dysplasia 1"
            ],
            "transcript": null,
            "entity_name": "TGFB3",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "South West GLH",
                "London South GLH",
                "Expert Review Red",
                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "CMPD4",
                    "FLJ32040",
                    "TMD",
                    "CMH9",
                    "LGMD2J",
                    "MYLK5"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12403",
                "gene_name": "titin",
                "omim_gene": [
                    "188840"
                ],
                "alias_name": null,
                "gene_symbol": "TTN",
                "hgnc_symbol": "TTN",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "2:179390716-179695529",
                            "ensembl_id": "ENSG00000155657"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:178525989-178830802",
                            "ensembl_id": "ENSG00000155657"
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                    }
                },
                "hgnc_date_symbol_changed": "1991-06-07"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Cardiomyopathy, dilated, 1G, 604145"
            ],
            "transcript": null,
            "entity_name": "TTN",
            "entity_type": "gene",
            "publications": [
                "30535219",
                "31251381"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        }
    ],
    "stats": {
        "number_of_strs": 0,
        "number_of_genes": 20,
        "number_of_regions": 0
    },
    "types": [
        {
            "name": "Rare Disease 100K",
            "slug": "rare-disease-100k",
            "description": "Rare Disease 100K"
        },
        {
            "name": "GMS Rare Disease",
            "slug": "gms-rare-disease",
            "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
        },
        {
            "name": "Component Of Super Panel",
            "slug": "component-of-super-panel",
            "description": "This panel is a component of a Super Panel"
        },
        {
            "name": "GMS signed-off",
            "slug": "gms-signed-off",
            "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
        }
    ],
    "status": "public",
    "hash_id": "55a3876e22c1fc63fec6d0da",
    "regions": [],
    "version": "2.8",
    "disease_group": "Cardiovascular disorders",
    "version_created": "2020-08-20T13:40:37.575050Z",
    "disease_sub_group": "Cardiomyopathy",
    "relevant_disorders": [
        "Arrhythmogenic Right Ventricular Cardiomyopathy",
        "Arrythmogenic cardiomyopathy",
        "R133"
    ],
    "signed_off": null
}