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{
    "id": 76,
    "name": "Long QT syndrome",
    "strs": [],
    "genes": [
        {
            "tags": [],
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                "London South GLH",
                "North West GLH",
                "Expert Review Green",
                "UKGTN",
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                "Expert list"
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            "penetrance": "Complete",
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                "Brugada syndrome 3 (611875)",
                "Timothy syndrome (601005)"
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                "Long QT syndrome 14",
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            "penetrance": "Complete",
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                "Long QT syndrome 15"
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        {
            "tags": [],
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                "Expert Review Green",
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            "penetrance": "Complete",
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                "?Ventricular tachycardia, catecholaminergic polymorphic 6, 618782",
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            "mode_of_pathogenicity": ""
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        {
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                "Expert Review Green",
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                "Expert list",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services",
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                    "LQT5"
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                "alias_name": null,
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            "penetrance": "Incomplete",
            "phenotypes": [
                "Long QT syndrome 5 (613695)",
                "Jervell and Lange-Nielsen syndrome 2 (612347)"
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                "11692163"
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            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "for-review"
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                "South West GLH",
                "London South GLH",
                "North West GLH",
                "Expert Review Green",
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                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services",
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            ],
            "gene_data": {
                "alias": [
                    "MiRP1",
                    "LQT6"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6242",
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                "alias_name": null,
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                "hgnc_date_symbol_changed": "1999-05-11"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Long QT syndrome 6 (613693)",
                "Atrial fibrillation, familial, 4 (611493)"
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            "entity_name": "KCNE2",
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            "tags": [],
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                "Illumina TruGenome Clinical Sequencing Services",
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                "gene_name": "potassium voltage-gated channel subfamily H member 2",
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                "alias_name": null,
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            "penetrance": "Incomplete",
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                "Short QT syndrome 1 (609620)",
                "Long QT syndrome-2",
                "Long QT syndrome-2 (613688)"
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        {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6263",
                "gene_name": "potassium voltage-gated channel subfamily J member 2",
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                "alias_name": null,
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                "LONG QT SYNDROME 7 (170390)",
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        {
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            },
            "penetrance": "Complete",
            "phenotypes": [
                "{Acquired long QT syndrome, reduced susceptibility to}, 613688"
            ],
            "transcript": null,
            "entity_name": "ALG10",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "South West GLH",
                "London South GLH",
                "North West GLH",
                "UKGTN",
                "Emory Genetics Laboratory",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen",
                "Expert list"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:493",
                "gene_name": "ankyrin 2",
                "omim_gene": [
                    "106410"
                ],
                "alias_name": null,
                "gene_symbol": "ANK2",
                "hgnc_symbol": "ANK2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:113739265-114304896",
                            "ensembl_id": "ENSG00000145362"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:112818109-113383740",
                            "ensembl_id": "ENSG00000145362"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-06-04"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Long QT syndrome-4",
                "Cardiac arrhythmia, ankyrin-B-related (600919)",
                "Long QT syndrome 4 (600919)"
            ],
            "transcript": null,
            "entity_name": "ANK2",
            "entity_type": "gene",
            "publications": [
                "12571597"
            ],
            "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",
                "Emory Genetics Laboratory",
                "Expert list",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [
                    "VIP-21",
                    "LGMD1C",
                    "VIP21",
                    "LQT9"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1529",
                "gene_name": "caveolin 3",
                "omim_gene": [
                    "601253"
                ],
                "alias_name": [
                    "M-caveolin"
                ],
                "gene_symbol": "CAV3",
                "hgnc_symbol": "CAV3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:8775486-8883492",
                            "ensembl_id": "ENSG00000182533"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:8733800-8841808",
                            "ensembl_id": "ENSG00000182533"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-05-14"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Long QT syndrome-9"
            ],
            "transcript": null,
            "entity_name": "CAV3",
            "entity_type": "gene",
            "publications": [
                "17060380"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "South West GLH",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "MiRP2",
                    "HOKPP"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6243",
                "gene_name": "potassium voltage-gated channel subfamily E regulatory subunit 3",
                "omim_gene": [
                    "604433"
                ],
                "alias_name": null,
                "gene_symbol": "KCNE3",
                "hgnc_symbol": "KCNE3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:74165886-74178774",
                            "ensembl_id": "ENSG00000175538"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:74454841-74467729",
                            "ensembl_id": "ENSG00000175538"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-05-11"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Long QT syndrome",
                "Brugada syndrome"
            ],
            "transcript": null,
            "entity_name": "KCNE3",
            "entity_type": "gene",
            "publications": [
                "19306396",
                "doi:10.​1007/​s12265-016-9673-5",
                "19306396"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "Unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "South West GLH",
                "London South GLH",
                "North West GLH",
                "UKGTN",
                "Expert list",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [
                    "Kir3.4",
                    "CIR",
                    "KATP1",
                    "GIRK4",
                    "LQT13"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6266",
                "gene_name": "potassium voltage-gated channel subfamily J member 5",
                "omim_gene": [
                    "600734"
                ],
                "alias_name": null,
                "gene_symbol": "KCNJ5",
                "hgnc_symbol": "KCNJ5",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:128761251-128790930",
                            "ensembl_id": "ENSG00000120457"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:128891356-128921035",
                            "ensembl_id": "ENSG00000120457"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1995-04-13"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Hyperaldosteronism, familial, type III (613677)",
                "Long QT syndrome 13 (613485)",
                "Long QT syndrome 13"
            ],
            "transcript": null,
            "entity_name": "KCNJ5",
            "entity_type": "gene",
            "publications": [
                "19716085"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "South West GLH",
                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "KIAA0464",
                    "CAPON"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:16859",
                "gene_name": "nitric oxide synthase 1 adaptor protein",
                "omim_gene": [
                    "605551"
                ],
                "alias_name": [
                    "C-terminal PDZ domain ligand of neuronal nitric oxide synthase"
                ],
                "gene_symbol": "NOS1AP",
                "hgnc_symbol": "NOS1AP",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:162039564-162353321",
                            "ensembl_id": "ENSG00000198929"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:162069774-162370475",
                            "ensembl_id": "ENSG00000198929"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-06-15"
            },
            "penetrance": "Complete",
            "phenotypes": [],
            "transcript": null,
            "entity_name": "NOS1AP",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "Unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "South West GLH",
                "London South GLH",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "ARVC2",
                    "VTSIP"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10484",
                "gene_name": "ryanodine receptor 2",
                "omim_gene": [
                    "180902"
                ],
                "alias_name": null,
                "gene_symbol": "RYR2",
                "hgnc_symbol": "RYR2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:237205505-237997288",
                            "ensembl_id": "ENSG00000198626"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:237042205-237833988",
                            "ensembl_id": "ENSG00000198626"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1989-12-07"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Long QT syndrome",
                "Catecholaminergic polymorphic ventricular tachycardia",
                "Arrhythmogenic right ventricular cardiomyopathy",
                ""
            ],
            "transcript": null,
            "entity_name": "RYR2",
            "entity_type": "gene",
            "publications": [
                "21126784",
                "doi:10.​1007/​s12265-016-9673-5"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "South West GLH",
                "London South GLH",
                "North West GLH",
                "Expert Review Red",
                "UKGTN",
                "Expert list",
                "Emory Genetics Laboratory",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [
                    "LQT10"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10592",
                "gene_name": "sodium voltage-gated channel beta subunit 4",
                "omim_gene": [
                    "608256"
                ],
                "alias_name": null,
                "gene_symbol": "SCN4B",
                "hgnc_symbol": "SCN4B",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:118004092-118023603",
                            "ensembl_id": "ENSG00000177098"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:118133377-118152888",
                            "ensembl_id": "ENSG00000177098"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1990-09-30"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Long QT syndrome-10",
                "Long QT syndrome-10 (611819)"
            ],
            "transcript": null,
            "entity_name": "SCN4B",
            "entity_type": "gene",
            "publications": [
                "17592081"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": "Other - please provide details in the comments"
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "South West GLH",
                "London South GLH",
                "North West GLH",
                "UKGTN",
                "Expert list",
                "Emory Genetics Laboratory",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "gene_data": {
                "alias": [
                    "TACIP1",
                    "LQT12"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11167",
                "gene_name": "syntrophin alpha 1",
                "omim_gene": [
                    "601017"
                ],
                "alias_name": [
                    "pro-TGF-alpha cytoplasmic domain-interacting protein 1",
                    "dystrophin-associated protein A1, 59kDa, acidic component"
                ],
                "gene_symbol": "SNTA1",
                "hgnc_symbol": "SNTA1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "20:31995761-32031698",
                            "ensembl_id": "ENSG00000101400"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "20:33407955-33443892",
                            "ensembl_id": "ENSG00000101400"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-12-14"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Long QT syndrome 12 612955",
                "Long QT syndrome 12 (612955)"
            ],
            "transcript": null,
            "entity_name": "SNTA1",
            "entity_type": "gene",
            "publications": [
                "19684871"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS"
            ],
            "gene_data": {
                "alias": [
                    "GPSN2L",
                    "SRD5A2L2",
                    "DKFZp313D0829",
                    "DKFZp313B2333",
                    "TERL"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:27365",
                "gene_name": "trans-2,3-enoyl-CoA reductase like",
                "omim_gene": [
                    "617242"
                ],
                "alias_name": [
                    "glycoprotein, synaptic 2-like"
                ],
                "gene_symbol": "TECRL",
                "hgnc_symbol": "TECRL",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:65140975-65275186",
                            "ensembl_id": "ENSG00000205678"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:64275257-64409468",
                            "ensembl_id": "ENSG00000205678"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2009-07-21"
            },
            "penetrance": null,
            "phenotypes": [
                "Ventricular tachycardia, catecholaminergic polymorphic, 3, 614021"
            ],
            "transcript": [],
            "entity_name": "TECRL",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": null
        }
    ],
    "stats": {
        "number_of_strs": 0,
        "number_of_genes": 22,
        "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": "55a3b19722c1fc6710839b80",
    "regions": [],
    "version": "2.20",
    "disease_group": "Cardiovascular disorders",
    "version_created": "2020-08-20T13:36:11.631827Z",
    "disease_sub_group": "Cardiac arrhythmia",
    "relevant_disorders": [
        "Long QT",
        "R127"
    ],
    "signed_off": "2020-08-20"
}