GET /api/v1/panels/214/?version=2.5
HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept

{
    "id": 214,
    "name": "Catecholaminergic polymorphic VT",
    "strs": [],
    "genes": [
        {
            "tags": [],
            "evidence": [
                "South West GLH",
                "London South GLH",
                "North West GLH",
                "Expert Review Green",
                "UKGTN",
                "Expert list",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [
                    "CAMI",
                    "PHKD",
                    "DD132"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1442",
                "gene_name": "calmodulin 1",
                "omim_gene": [
                    "114180"
                ],
                "alias_name": [
                    "prepro-calmodulin 1",
                    "phosphorylase kinase subunit delta"
                ],
                "gene_symbol": "CALM1",
                "hgnc_symbol": "CALM1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:90862846-90874605",
                            "ensembl_id": "ENSG00000198668"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "14:90396502-90408261",
                            "ensembl_id": "ENSG00000198668"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-06-05"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Long QT syndrome 14 (616247)",
                "Ventricular tachycardia, catecholaminergic polymorphic, 4 (614916)",
                "catecholaminergic polymorphic ventricular tachycardia"
            ],
            "transcript": null,
            "entity_name": "CALM1",
            "entity_type": "gene",
            "publications": [
                "27761157",
                "19121813"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "South West GLH",
                "London South GLH",
                "Expert Review Green",
                "Oxford Medical Genetics Laboratory"
            ],
            "gene_data": {
                "alias": [
                    "PHKD",
                    "CAMII"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1445",
                "gene_name": "calmodulin 2",
                "omim_gene": [
                    "114182"
                ],
                "alias_name": [
                    "prepro-calmodulin 2",
                    "phosphorylase kinase subunit delta"
                ],
                "gene_symbol": "CALM2",
                "hgnc_symbol": "CALM2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:47387221-47403740",
                            "ensembl_id": "ENSG00000143933"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:47160082-47176601",
                            "ensembl_id": "ENSG00000143933"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-06-04"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Long QT syndrome 15, 616249"
            ],
            "transcript": null,
            "entity_name": "CALM2",
            "entity_type": "gene",
            "publications": [
                "27114410",
                "27100291",
                "24917665"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "South West GLH",
                "London South GLH",
                "Oxford Medical Genetics Laboratory"
            ],
            "gene_data": {
                "alias": [
                    "PHKD"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1449",
                "gene_name": "calmodulin 3",
                "omim_gene": [
                    "114183"
                ],
                "alias_name": [
                    "prepro-calmodulin 3",
                    "phosphorylase kinase subunit delta"
                ],
                "gene_symbol": "CALM3",
                "hgnc_symbol": "CALM3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:47104331-47114050",
                            "ensembl_id": "ENSG00000160014"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:46601074-46610793",
                            "ensembl_id": "ENSG00000160014"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-06-05"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "?Ventricular tachycardia, catecholaminergic polymorphic 6, 618782",
                "Long QT syndrome 16,618782"
            ],
            "transcript": null,
            "entity_name": "CALM3",
            "entity_type": "gene",
            "publications": [
                "27516456"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "South West GLH",
                "London South GLH",
                "North West GLH",
                "Expert Review Green",
                "UKGTN",
                "Expert list",
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "gene_data": {
                "alias": [
                    "PDIB2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1513",
                "gene_name": "calsequestrin 2",
                "omim_gene": [
                    "114251"
                ],
                "alias_name": null,
                "gene_symbol": "CASQ2",
                "hgnc_symbol": "CASQ2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:116242628-116311402",
                            "ensembl_id": "ENSG00000118729"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:115700007-115768781",
                            "ensembl_id": "ENSG00000118729"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-11-05"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Ventricular tachycardia, catecholaminergic polymorphic, 2 (611938)",
                "Ventricular tachycardia, catecholaminergic polymorphic, 2"
            ],
            "transcript": null,
            "entity_name": "CASQ2",
            "entity_type": "gene",
            "publications": [
                "27761157",
                "19121813",
                "16908766"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "South West GLH",
                "London South GLH",
                "North West GLH",
                "Expert Review Green",
                "Eligibility statement prior genetic testing",
                "Expert list",
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services",
                "UKGTN",
                "Emory Genetics Laboratory"
            ],
            "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": [
                "Ventricular tachycardia, catecholaminergic polymorphic, 1",
                "Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772)",
                "Arrhythmogenic right ventricular dysplasia 2 (600996)",
                "Catecholaminergic polymorphic ventricular tachycardia",
                "catecholaminergic polymorphic ventricular tachycardia"
            ],
            "transcript": null,
            "entity_name": "RYR2",
            "entity_type": "gene",
            "publications": [
                "27761157",
                "19121813",
                "16391617"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "South West GLH",
                "London South GLH",
                "North West GLH",
                "Expert Review Green",
                "UKGTN",
                "Expert list",
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12261",
                "gene_name": "triadin",
                "omim_gene": [
                    "603283"
                ],
                "alias_name": null,
                "gene_symbol": "TRDN",
                "hgnc_symbol": "TRDN",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:123537483-123958238",
                            "ensembl_id": "ENSG00000186439"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:123216339-123637093",
                            "ensembl_id": "ENSG00000186439"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-12-17"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness (615441)",
                "catecholaminergic polymorphic ventricular tachycardia",
                "Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness"
            ],
            "transcript": null,
            "entity_name": "TRDN",
            "entity_type": "gene",
            "publications": [
                "26200674"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "South West GLH"
            ],
            "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": null,
            "entity_name": "TECRL",
            "entity_type": "gene",
            "publications": [
                "27861123"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "South West GLH",
                "Expert Review Red",
                "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": [
                "catecholaminergic polymorphic ventricular tachycardia"
            ],
            "transcript": null,
            "entity_name": "ANK2",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "South West GLH",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "minK",
                    "ISK",
                    "JLNS2",
                    "LQT5"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6240",
                "gene_name": "potassium voltage-gated channel subfamily E regulatory subunit 1",
                "omim_gene": [
                    "176261"
                ],
                "alias_name": null,
                "gene_symbol": "KCNE1",
                "hgnc_symbol": "KCNE1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "21:35818988-35884573",
                            "ensembl_id": "ENSG00000180509"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "21:34446688-34512275",
                            "ensembl_id": "ENSG00000180509"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-08-13"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Catecholaminergic polymorphic ventricular tachycardia",
                "Long QT syndrome"
            ],
            "transcript": null,
            "entity_name": "KCNE1",
            "entity_type": "gene",
            "publications": [
                "16818210",
                "doi:10.​1007/​s12265-016-9673-5"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "South West GLH",
                "North West GLH",
                "UKGTN",
                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "Kir2.1",
                    "IRK1",
                    "LQT7"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6263",
                "gene_name": "potassium voltage-gated channel subfamily J member 2",
                "omim_gene": [
                    "600681"
                ],
                "alias_name": null,
                "gene_symbol": "KCNJ2",
                "hgnc_symbol": "KCNJ2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:68164814-68176189",
                            "ensembl_id": "ENSG00000123700"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:70168673-70180048",
                            "ensembl_id": "ENSG00000123700"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-02-08"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "catecholaminergic polymorphic ventricular tachycardia",
                "Atrial fibrillation, familial, 9 (613980)",
                "Andersen syndrome (170390)",
                "Short QT syndrome 3 (609622)"
            ],
            "transcript": null,
            "entity_name": "KCNJ2",
            "entity_type": "gene",
            "publications": [
                "27761157"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        }
    ],
    "stats": {
        "number_of_strs": 0,
        "number_of_genes": 10,
        "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": "55a3aac122c1fc6710839b7d",
    "regions": [],
    "version": "2.5",
    "disease_group": "Cardiovascular disorders",
    "version_created": "2020-08-20T13:55:55.879522Z",
    "disease_sub_group": "Cardiac arrhythmia",
    "relevant_disorders": [
        "Catecholaminergic Polymorphic Ventricular Tachycardia",
        "R129"
    ],
    "signed_off": "2020-08-20"
}