GET /api/v1/panels/312/?version=2.0
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{
    "id": 312,
    "hash_id": "55bf826222c1fc0fe45530c1",
    "name": "Familial hypoparathyroidism",
    "disease_group": "Endocrine disorders",
    "disease_sub_group": "Disorders of calcium homeostasis",
    "status": "public",
    "version": "2.0",
    "version_created": "2019-09-23T12:02:24.842989Z",
    "relevant_disorders": [
        "Familial or syndromic hypoparathyroidism",
        "R153"
    ],
    "stats": {
        "number_of_genes": 9,
        "number_of_strs": 0,
        "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 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."
        }
    ],
    "genes": [
        {
            "gene_data": {
                "alias": [
                    "PGA1",
                    "APS1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:360",
                "gene_name": "autoimmune regulator",
                "omim_gene": [
                    "607358"
                ],
                "alias_name": [
                    "autoimmune polyendocrinopathy candidiasis ectodermal dystrophy"
                ],
                "gene_symbol": "AIRE",
                "hgnc_symbol": "AIRE",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "21:45705721-45718531",
                            "ensembl_id": "ENSG00000160224"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "21:44285838-44298648",
                            "ensembl_id": "ENSG00000160224"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-09-05"
            },
            "entity_type": "gene",
            "entity_name": "AIRE",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN",
                "Expert list"
            ],
            "phenotypes": [
                "Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia\t240300"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "FHH",
                    "NSHPT",
                    "GPRC2A"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1514",
                "gene_name": "calcium sensing receptor",
                "omim_gene": [
                    "601199"
                ],
                "alias_name": [
                    "severe neonatal hyperparathyroidism"
                ],
                "gene_symbol": "CASR",
                "hgnc_symbol": "CASR",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:121902530-122005342",
                            "ensembl_id": "ENSG00000036828"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:122183683-122291629",
                            "ensembl_id": "ENSG00000036828"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-12-04"
            },
            "entity_type": "gene",
            "entity_name": "CASR",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Eligibility statement prior genetic testing",
                "Expert list",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "phenotypes": [
                "Hyperparathyroidism, neonatal, 239200",
                "Hypocalcemia, autosomal dominant, with or without Bartter syndrome, 601198"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "HDR"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4172",
                "gene_name": "GATA binding protein 3",
                "omim_gene": [
                    "131320"
                ],
                "alias_name": null,
                "gene_symbol": "GATA3",
                "hgnc_symbol": "GATA3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:8095567-8117161",
                            "ensembl_id": "ENSG00000107485"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:8053604-8075198",
                            "ensembl_id": "ENSG00000107485"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-11-03"
            },
            "entity_type": "gene",
            "entity_name": "GATA3",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Expert list",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "hGCMb"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4198",
                "gene_name": "glial cells missing homolog 2",
                "omim_gene": [
                    "603716"
                ],
                "alias_name": null,
                "gene_symbol": "GCM2",
                "hgnc_symbol": "GCM2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:10873456-10882174",
                            "ensembl_id": "ENSG00000124827"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:10873223-10881941",
                            "ensembl_id": "ENSG00000124827"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2002-09-27"
            },
            "entity_type": "gene",
            "entity_name": "GCM2",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "18712808",
                "22066718",
                "20463099",
                "20190276"
            ],
            "evidence": [
                "Expert Review Green",
                "Expert list",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Hypoparathyroidism, familial isolated, 146200"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "FBH",
                    "FBH2",
                    "FHH2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4379",
                "gene_name": "G protein subunit alpha 11",
                "omim_gene": [
                    "139313"
                ],
                "alias_name": null,
                "gene_symbol": "GNA11",
                "hgnc_symbol": "GNA11",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:3094408-3124002",
                            "ensembl_id": "ENSG00000088256"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:3094410-3124004",
                            "ensembl_id": "ENSG00000088256"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-07-20"
            },
            "entity_type": "gene",
            "entity_name": "GNA11",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
            "publications": [
                "23802516",
                "24823460",
                "23782177"
            ],
            "evidence": [
                "Expert list",
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
                "Literature"
            ],
            "phenotypes": [
                "Hypocalcemia, autosomal dominant 2, 615361",
                "hypercalcemia, type II, 145981"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "PTH1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9606",
                "gene_name": "parathyroid hormone",
                "omim_gene": [
                    "168450"
                ],
                "alias_name": [
                    "parathyrin",
                    "parathormone",
                    "parathyroid hormone 1",
                    "preproparathyroid hormone",
                    "prepro-PTH"
                ],
                "gene_symbol": "PTH",
                "hgnc_symbol": "PTH",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:13513602-13517728",
                            "ensembl_id": "ENSG00000152266"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:13492055-13496181",
                            "ensembl_id": "ENSG00000152266"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "PTH",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Expert list",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Hypoparathyroidism, autosomal dominant, 146200",
                "Hypoparathyroidism, autosomal recessive, 146200"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "KCS1",
                    "pac2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11582",
                "gene_name": "tubulin folding cofactor E",
                "omim_gene": [
                    "604934"
                ],
                "alias_name": null,
                "gene_symbol": "TBCE",
                "hgnc_symbol": "TBCE",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:235530675-235612283",
                            "ensembl_id": "ENSG00000116957"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:235367360-235448968",
                            "ensembl_id": "ENSG00000116957"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-07-31"
            },
            "entity_type": "gene",
            "entity_name": "TBCE",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "12389028",
                "16938882"
            ],
            "evidence": [
                "Expert Review Green",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Hypoparathyroidism-retardation-dysmorphism syndrome, 241410",
                "Caffey syndrome, type 1, 244460"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11199",
                "gene_name": "SRY-box 3",
                "omim_gene": [
                    "313430"
                ],
                "alias_name": null,
                "gene_symbol": "SOX3",
                "hgnc_symbol": "SOX3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:139585152-139587225",
                            "ensembl_id": "ENSG00000134595"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:140502985-140505116",
                            "ensembl_id": "ENSG00000134595"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-11-30"
            },
            "entity_type": "gene",
            "entity_name": "SOX3",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "6167084"
            ],
            "evidence": [
                "Expert Review Red",
                "Expert list"
            ],
            "phenotypes": [
                "Mental retardation, X-linked, with isolated growth hormone deficiency, 300123",
                "Panhypopituitarism, X-linked, 312000"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "CATCH22"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11592",
                "gene_name": "T-box 1",
                "omim_gene": [
                    "602054"
                ],
                "alias_name": null,
                "gene_symbol": "TBX1",
                "hgnc_symbol": "TBX1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "22:19744226-19771116",
                            "ensembl_id": "ENSG00000184058"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "22:19756703-19783593",
                            "ensembl_id": "ENSG00000184058"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-05-15"
            },
            "entity_type": "gene",
            "entity_name": "TBX1",
            "confidence_level": "1",
            "penetrance": "unknown",
            "mode_of_pathogenicity": null,
            "publications": [
                "30137364"
            ],
            "evidence": [
                "Expert Review Red",
                "Other"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": []
        }
    ],
    "strs": [],
    "regions": []
}