GET /api/v1/panels/31/
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{
    "id": 31,
    "hash_id": "5763f2938f620350a1996046",
    "name": "Congenital hypothyroidism",
    "disease_group": "Endocrine disorders",
    "disease_sub_group": "Thyroid disorders",
    "status": "public",
    "version": "2.4",
    "version_created": "2020-12-07T14:35:12.288189Z",
    "relevant_disorders": [
        "Congenital hypothyroidism or thyroid agenesis",
        "R145"
    ],
    "stats": {
        "number_of_genes": 34,
        "number_of_strs": 0,
        "number_of_regions": 2
    },
    "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 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": [
                    "P138-TOX",
                    "P138(TOX)",
                    "THOX2",
                    "LNOX2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13273",
                "gene_name": "dual oxidase 2",
                "omim_gene": [
                    "606759"
                ],
                "alias_name": [
                    "dual oxidase-like domains 2",
                    "nicotinamide adenine dinucleotide phosphate oxidase",
                    "flavoprotein NADPH oxidase",
                    "NADPH thyroid oxidase 2",
                    "NADH/NADPH thyroid oxidase p138-tox",
                    "NADPH oxidase/peroxidase DUOX2"
                ],
                "gene_symbol": "DUOX2",
                "hgnc_symbol": "DUOX2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:45384848-45406542",
                            "ensembl_id": "ENSG00000140279"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "15:45092650-45114344",
                            "ensembl_id": "ENSG00000140279"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2000-11-09"
            },
            "entity_type": "gene",
            "entity_name": "DUOX2",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "12110737",
                "24423310",
                "16134168",
                "27525530 (Nicholas et al.,2016) identify a monogenic and digenic basis of disease",
                "27166716"
            ],
            "evidence": [
                "Expert Review Green",
                "Eligibility statement prior genetic testing",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "phenotypes": [
                "Congenital hypothyroidism",
                "Thryoid dyshormonogenesis 6, 607200",
                "permanent congenital hypothyroidism",
                "transient congenital hypothyroidism",
                "eutopic gland-in-situ",
                "goitre",
                "borderline congenital hypothyroidism",
                "iodide organification defect"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
            "tags": [
                "monogenic-polygenic"
            ],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:32698",
                "gene_name": "dual oxidase maturation factor 2",
                "omim_gene": [
                    "612772"
                ],
                "alias_name": null,
                "gene_symbol": "DUOXA2",
                "hgnc_symbol": "DUOXA2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:45406519-45410619",
                            "ensembl_id": "ENSG00000140274"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "15:45114321-45118421",
                            "ensembl_id": "ENSG00000140274"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-07-25"
            },
            "entity_type": "gene",
            "entity_name": "DUOXA2",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "18042646",
                "21367925",
                "28100324",
                "26758695",
                "27349010"
            ],
            "evidence": [
                "Expert Review Green",
                "Other"
            ],
            "phenotypes": [
                "Thyroid dyshormonogenesis 5, 274900",
                "HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 5",
                "eutopic gland-in-situ",
                "mild congenital hypothyroidism",
                "transient congenital hypothyroidism"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [
                "monogenic-polygenic",
                "deletions"
            ],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "TTF-2",
                    "HFKH4"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3806",
                "gene_name": "forkhead box E1",
                "omim_gene": [
                    "602617"
                ],
                "alias_name": [
                    "thyroid transcription factor 2"
                ],
                "gene_symbol": "FOXE1",
                "hgnc_symbol": "FOXE1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:100615536-100618986",
                            "ensembl_id": "ENSG00000178919"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:97853254-97856715",
                            "ensembl_id": "ENSG00000178919"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-02-14"
            },
            "entity_type": "gene",
            "entity_name": "FOXE1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "Other - please provide details in the comments",
            "publications": [
                "9697705",
                "20484477",
                "9697704 (mouse model)",
                "24219130 (gain-of-function mutation)"
            ],
            "evidence": [
                "Expert Review Green",
                "Eligibility statement prior genetic testing",
                "UKGTN",
                "Emory Genetics Laboratory"
            ],
            "phenotypes": [
                "congenital hypothyroidism",
                "Bamforth Lazarus syndrome, 241850 (hypothyroidism)",
                "Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate, 241850",
                "thyroid agenesis",
                "cleft palate",
                "spiky hair",
                "choanal atresia"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "MGC33662"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:28510",
                "gene_name": "GLIS family zinc finger 3",
                "omim_gene": [
                    "610192"
                ],
                "alias_name": null,
                "gene_symbol": "GLIS3",
                "hgnc_symbol": "GLIS3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:3824127-4348392",
                            "ensembl_id": "ENSG00000107249"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:3824127-4348392",
                            "ensembl_id": "ENSG00000107249"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-07-16"
            },
            "entity_type": "gene",
            "entity_name": "GLIS3",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "26259131",
                "16715098"
            ],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Congenital hypothyroidism",
                "Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199",
                "neonatal non-autoimmune diabetes mellitus",
                "severe congenital hypothyroidism",
                "variable cholestasis",
                "hepatic fibrosis",
                "congenital glaucoma",
                "polycystic kidneys",
                "dysmorphic facies",
                "sensorineural deafness"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "NESP55",
                    "NESP",
                    "GNASXL",
                    "GPSA",
                    "SCG6",
                    "SgVI"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4392",
                "gene_name": "GNAS complex locus",
                "omim_gene": [
                    "139320"
                ],
                "alias_name": [
                    "secretogranin VI",
                    "G protein subunit alpha S"
                ],
                "gene_symbol": "GNAS",
                "hgnc_symbol": "GNAS",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "20:57414773-57486247",
                            "ensembl_id": "ENSG00000087460"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "20:58839718-58911192",
                            "ensembl_id": "ENSG00000087460"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-12-20"
            },
            "entity_type": "gene",
            "entity_name": "GNAS",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "17299070",
                "23412865",
                "27922245"
            ],
            "evidence": [
                "Expert Review Green",
                "Eligibility statement prior genetic testing"
            ],
            "phenotypes": [
                "Pseudohypoparathyroidism Ia, 103580 (Hypothyroidism)"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "RPX",
                    "ANF"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4877",
                "gene_name": "HESX homeobox 1",
                "omim_gene": [
                    "601802"
                ],
                "alias_name": null,
                "gene_symbol": "HESX1",
                "hgnc_symbol": "HESX1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:57231944-57260549",
                            "ensembl_id": "ENSG00000163666"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:57197843-57226521",
                            "ensembl_id": "ENSG00000163666"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-11-19"
            },
            "entity_type": "gene",
            "entity_name": "HESX1",
            "confidence_level": "3",
            "penetrance": "Incomplete",
            "mode_of_pathogenicity": "",
            "publications": [
                "9620767",
                "11136712",
                "26416826 (2015 review)"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Panhypopiuitarism",
                "GH and evolving TSH, ACTH, LH/FSH deficiency",
                "septo-optic dysplasia",
                "anterior pituitary, ectopic posterior pituitary",
                "agenesis of corpus callous",
                "optic nerve hypoplasia",
                "Pituitary hormone deficiency, combined, 5, 182230"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "KIAA0364",
                    "IGDC1",
                    "IGCD1",
                    "INHBP",
                    "MGC75490",
                    "PGSF2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:5948",
                "gene_name": "immunoglobulin superfamily member 1",
                "omim_gene": [
                    "300137"
                ],
                "alias_name": null,
                "gene_symbol": "IGSF1",
                "hgnc_symbol": "IGSF1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:130407480-130533677",
                            "ensembl_id": "ENSG00000147255"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:131273506-131578899",
                            "ensembl_id": "ENSG00000147255"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-10-27"
            },
            "entity_type": "gene",
            "entity_name": "IGSF1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "23143598",
                "26840047",
                "27762734",
                "24108313 (reports that a subset of female carriers show central hypothyroidism)."
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "central hypothyroidism",
                "hypoprolactinaemia",
                "GH deficiency",
                "macroorchidism",
                "Hypothyroidism, central, and testicular enlargement, 300888"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "PY160",
                    "IRS-4"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6128",
                "gene_name": "insulin receptor substrate 4",
                "omim_gene": [
                    "300904"
                ],
                "alias_name": null,
                "gene_symbol": "IRS4",
                "hgnc_symbol": "IRS4",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:107975712-107979651",
                            "ensembl_id": "ENSG00000133124"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:108732482-108736409",
                            "ensembl_id": "ENSG00000133124"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-11-24"
            },
            "entity_type": "gene",
            "entity_name": "IRS4",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "30061370",
                "10644546"
            ],
            "evidence": [
                "Expert Review Green",
                "East of England GLH"
            ],
            "phenotypes": [
                "Congenital central hypothyroidism"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "dJ422F24.1",
                    "DEHAL1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:21071",
                "gene_name": "iodotyrosine deiodinase",
                "omim_gene": [
                    "612025"
                ],
                "alias_name": null,
                "gene_symbol": "IYD",
                "hgnc_symbol": "IYD",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:150690028-150727105",
                            "ensembl_id": "ENSG00000009765"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:150368892-150405969",
                            "ensembl_id": "ENSG00000009765"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-08-24"
            },
            "entity_type": "gene",
            "entity_name": "IYD",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "PMID:18434651 (Moreno et al., 2008): 2 missense mutations and a 3bp deletion were identified in 4 patients with hypothryoidism from 3 unrelated families",
                "PMID:22535972 (Burniat et al., 2012) identified a homozygous IYD mutation in a child born to first-cousins. A 4.5-yr-old unaffected sister was found homozygous for the mutation",
                "24629858 (Review)",
                "18765512"
            ],
            "evidence": [
                "Expert Review Green",
                "Other",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "phenotypes": [
                "Congenital hypothyroidism",
                "Thyroid dyshormonogenesis 4, 274800",
                "goitre",
                "childhood/adolescent onset hypothyroidism",
                "normal iodide organification",
                "raised urinary MIT and DIT"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6595",
                "gene_name": "LIM homeobox 3",
                "omim_gene": [
                    "600577"
                ],
                "alias_name": null,
                "gene_symbol": "LHX3",
                "hgnc_symbol": "LHX3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:139088096-139096955",
                            "ensembl_id": "ENSG00000107187"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:136196250-136205109",
                            "ensembl_id": "ENSG00000107187"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2000-03-22"
            },
            "entity_type": "gene",
            "entity_name": "LHX3",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "10835633",
                "26416826 (2015 review)",
                "21249393",
                "18407919"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "GH, TSH, LH, FSH, PRL deficiency",
                "limited neck rotation",
                "short cervical spine",
                "sensorineural deafness",
                "anterior pituitary may be normal, hypoplastic or enlarged",
                "Pituitary hormone deficiency, combined, 3, \t221750"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "Gsh4"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:21734",
                "gene_name": "LIM homeobox 4",
                "omim_gene": [
                    "602146"
                ],
                "alias_name": null,
                "gene_symbol": "LHX4",
                "hgnc_symbol": "LHX4",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:180199421-180249380",
                            "ensembl_id": "ENSG00000121454"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:180230286-180278982",
                            "ensembl_id": "ENSG00000121454"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-07-21"
            },
            "entity_type": "gene",
            "entity_name": "LHX4",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "11567216",
                "26416826 (2015 review)",
                "25955177"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "GH, TSH, ACTH, variable gonadotrophin deficiencies",
                "cerebellar abnormalities",
                "anterior pituitary hypoplasia",
                "etopic posterior pituitary",
                "Pituitary hormone deficiency, combined, 4, 262700"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "TTF-1",
                    "TTF1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11825",
                "gene_name": "NK2 homeobox 1",
                "omim_gene": [
                    "600635"
                ],
                "alias_name": null,
                "gene_symbol": "NKX2-1",
                "hgnc_symbol": "NKX2-1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:36985602-36990354",
                            "ensembl_id": "ENSG00000136352"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "14:36516392-36521149",
                            "ensembl_id": "ENSG00000136352"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-07-26"
            },
            "entity_type": "gene",
            "entity_name": "NKX2-1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "24714694",
                "11854319"
            ],
            "evidence": [
                "Expert Review Green",
                "Other",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN"
            ],
            "phenotypes": [
                "Congenital hypothyroidism",
                "Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978",
                "Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction, 610978",
                "CAHTP",
                "Neurological abnormalities",
                "benign hereditary chorea",
                "neonatal respiratory distress syndrome",
                "recurrent respiratory infections"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8522",
                "gene_name": "orthodenticle homeobox 2",
                "omim_gene": [
                    "600037"
                ],
                "alias_name": null,
                "gene_symbol": "OTX2",
                "hgnc_symbol": "OTX2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:57267425-57277197",
                            "ensembl_id": "ENSG00000165588"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "14:56799905-56810479",
                            "ensembl_id": "ENSG00000165588"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-02-08"
            },
            "entity_type": "gene",
            "entity_name": "OTX2",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "18628516",
                "26416826 (2015 review)"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "GH, TSH, ACTH, LH, FSH deficiency",
                "Anophthalmia Retinal dystrophy",
                "normal or hypoplastic anterior pituitary",
                "ectopic posterior pituitary",
                "Pituitary hormone deficiency, combined, 6, 613986"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [
                "missense"
            ],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8622",
                "gene_name": "paired box 8",
                "omim_gene": [
                    "167415"
                ],
                "alias_name": null,
                "gene_symbol": "PAX8",
                "hgnc_symbol": "PAX8",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:113973574-114036527",
                            "ensembl_id": "ENSG00000125618"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:113215997-113278950",
                            "ensembl_id": "ENSG00000125618"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-11-16"
            },
            "entity_type": "gene",
            "entity_name": "PAX8",
            "confidence_level": "3",
            "penetrance": "Incomplete",
            "mode_of_pathogenicity": "",
            "publications": [
                "PMID:23647375",
                "PMID:9590296"
            ],
            "evidence": [
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN",
                "Emory Genetics Laboratory",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "phenotypes": [
                "Congenital hypothyroidism",
                "Hypothyroidism, Congenital, Nongoitrous, 2, 218700",
                "Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700",
                "urogenital tract malformations",
                "thyroid hypoplasia",
                "thyroid dysgenesis",
                "eutopic gland-in-situ"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "GHF-1",
                    "POU1F1a"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9210",
                "gene_name": "POU class 1 homeobox 1",
                "omim_gene": [
                    "173110"
                ],
                "alias_name": [
                    "growth hormone factor 1"
                ],
                "gene_symbol": "POU1F1",
                "hgnc_symbol": "POU1F1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:87308554-87325737",
                            "ensembl_id": "ENSG00000064835"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:87259404-87276587",
                            "ensembl_id": "ENSG00000064835"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-01-12"
            },
            "entity_type": "gene",
            "entity_name": "POU1F1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "Other - please provide details in the comments",
            "publications": [
                "26416826",
                "11297581",
                "16060904"
            ],
            "evidence": [
                "Expert Review Green",
                "Other"
            ],
            "phenotypes": [
                "Pituitary hormone deficiency, combined, 1, 613038 (Hypopthyroidism)",
                "congenital hypothyroidism"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CNC1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9388",
                "gene_name": "protein kinase cAMP-dependent type I regulatory subunit alpha",
                "omim_gene": [
                    "188830"
                ],
                "alias_name": [
                    "Carney complex type 1"
                ],
                "gene_symbol": "PRKAR1A",
                "hgnc_symbol": "PRKAR1A",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:66507921-66547460",
                            "ensembl_id": "ENSG00000108946"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:68511780-68551319",
                            "ensembl_id": "ENSG00000108946"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1988-05-11"
            },
            "entity_type": "gene",
            "entity_name": "PRKAR1A",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "Other - please provide details in the comments",
            "publications": [
                "21651393",
                "22464250"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "Acrodysostosis, mild hormone resistance (TSH, PTH, GPCR-cAMP signalling hormones",
                "Acrodysostosis 1, with or without hormone resistance, 101800"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9455",
                "gene_name": "PROP paired-like homeobox 1",
                "omim_gene": [
                    "601538"
                ],
                "alias_name": null,
                "gene_symbol": "PROP1",
                "hgnc_symbol": "PROP1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:177419236-177423243",
                            "ensembl_id": "ENSG00000175325"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:177992235-177996242",
                            "ensembl_id": "ENSG00000175325"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-02-02"
            },
            "entity_type": "gene",
            "entity_name": "PROP1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "9768691",
                "15126542",
                "15472175",
                "26416826 (2015 review)",
                "23652424",
                "16984240"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "GH, TSH, LH, FSH, PRL deficiency with variable age of onset, evolving ACTH deficiency",
                "Commonest cause of combined pituitary hormone deficit without extra pituitary manifestations",
                "Hypoplastic or normal anterior pituitary although there have been reports of an enlarged anterior pituitary at initial scanning in childhood with spontaneous involution over time",
                "Pituitary hormone deficiency, combined, 2, 262600"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "SBP2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:30972",
                "gene_name": "SECIS binding protein 2",
                "omim_gene": [
                    "607693"
                ],
                "alias_name": [
                    "Sec insertion sequence-binding protein 2"
                ],
                "gene_symbol": "SECISBP2",
                "hgnc_symbol": "SECISBP2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:91933421-91974557",
                            "ensembl_id": "ENSG00000187742"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:89318506-89359662",
                            "ensembl_id": "ENSG00000187742"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-05-10"
            },
            "entity_type": "gene",
            "entity_name": "SECISBP2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "24629861",
                "22986150",
                "Diversity Selenium Functions in Health and Disease, Edited by Regina Brigelius-Flohe and Helmut Sies, Chapter 16. Mutations in SECISBP2. Erik Schoenmakers, Carla Moran, Nadia Schoenmakers and Krishna Chatterjee. CRC Press 2015. Pages 343 376. Print ISBN: 978-1-4822-5126-5. eBook ISBN: 978-1-4822-5127-2. DOI: 10.1201/b18810-23",
                "20501692",
                "19602558",
                "22247018",
                "16228000",
                "21084748"
            ],
            "evidence": [
                "Expert Review Green"
            ],
            "phenotypes": [
                "Short stature-delayed bone age due to thyroid hormone metabolism deficiency",
                "Selenocysteine insertion sequence binding protein 2 (SBP2) defect",
                "Abnormal thyroid hormone metabolism",
                "Thyroid hormone metabolism, abnormal, 609698",
                "THYROID HORMONE METABOLISM, ABNORMAL"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "XPCT",
                    "MCT8",
                    "MCT7"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10923",
                "gene_name": "solute carrier family 16 member 2",
                "omim_gene": [
                    "300095"
                ],
                "alias_name": null,
                "gene_symbol": "SLC16A2",
                "hgnc_symbol": "SLC16A2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:73641085-73753752",
                            "ensembl_id": "ENSG00000147100"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:74421461-74533917",
                            "ensembl_id": "ENSG00000147100"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-04-22"
            },
            "entity_type": "gene",
            "entity_name": "SLC16A2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "24847459"
            ],
            "evidence": [
                "Expert Review Green"
            ],
            "phenotypes": [
                "MENTAL RETARDATION AND MUSCULAR ATROPHY",
                "MCT8 (SLC16A2)-specific thyroid hormone cell transporter deficiency",
                "monocarboxylate transporter 8 (MCT8) deficiency",
                "ALLAN-HERNDON SYNDROME",
                "Monocarboxylate transporter 8 (MCT8) defect",
                "Allan-Herndon-Dudley syndrome",
                "AHDS",
                "MENTAL RETARDATION, X-LINKED, WITH HYPOTONIA",
                "Allan_Herndon_Dudley Syndrome",
                "mental retardation, X-linked, with hypotonia",
                "MONOCARBOXYLATE TRANSPORTER 8 DEFICIENCY",
                "Allan-Herndon-Dudley Syndrome",
                "T3 RESISTANCE",
                "TRIIODOTHYRONINE RESISTANCE",
                "300523",
                "Allan-Herndon-Dudley syndrome, 300523",
                "ALLAN-HERNDON-DUDLEY SYNDROME"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "tags": [
                "treatable"
            ],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "PDS"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8818",
                "gene_name": "solute carrier family 26 member 4",
                "omim_gene": [
                    "605646"
                ],
                "alias_name": [
                    "pendrin"
                ],
                "gene_symbol": "SLC26A4",
                "hgnc_symbol": "SLC26A4",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:107301080-107358254",
                            "ensembl_id": "ENSG00000091137"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:107660635-107717809",
                            "ensembl_id": "ENSG00000091137"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-10-27"
            },
            "entity_type": "gene",
            "entity_name": "SLC26A4",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "9398842",
                "11932316"
            ],
            "evidence": [
                "Expert Review Green",
                "Eligibility statement prior genetic testing",
                "Other"
            ],
            "phenotypes": [
                "Pendred syndrome, 274600 (congenital deafness and thyroid goitre)",
                "Sensorineural deafness",
                "enlarged vestibular aqueduct",
                "Mondini defect",
                "partial iodide organification defect",
                "goitre",
                "mild hypothyroidism"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "treatable",
                "monogenic-polygenic"
            ],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "SUT2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14467",
                "gene_name": "solute carrier family 26 member 7",
                "omim_gene": [
                    "608479"
                ],
                "alias_name": [
                    "Anion exchange transporter"
                ],
                "gene_symbol": "SLC26A7",
                "hgnc_symbol": "SLC26A7",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "8:92221722-92410378",
                            "ensembl_id": "ENSG00000147606"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "8:91209494-91398152",
                            "ensembl_id": "ENSG00000147606"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-01-25"
            },
            "entity_type": "gene",
            "entity_name": "SLC26A7",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "29546359",
                "30333321"
            ],
            "evidence": [
                "Expert Review Green",
                "East of England GLH"
            ],
            "phenotypes": [
                "Primary congenital hypothyroidism (dyshormonogenesis)"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "NIS"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11040",
                "gene_name": "solute carrier family 5 member 5",
                "omim_gene": [
                    "601843"
                ],
                "alias_name": null,
                "gene_symbol": "SLC5A5",
                "hgnc_symbol": "SLC5A5",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:17982782-18005983",
                            "ensembl_id": "ENSG00000105641"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:17871973-17895174",
                            "ensembl_id": "ENSG00000105641"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-04-16"
            },
            "entity_type": "gene",
            "entity_name": "SLC5A5",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "9171822",
                "16418213"
            ],
            "evidence": [
                "Expert Review Green",
                "Other"
            ],
            "phenotypes": [
                "Thyroid dyshormonogenesis 1,  274400",
                "HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 1",
                "Apparent athyreosis on nuclear medicine scan",
                "goitre",
                "childhood onset hypothyroidism"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "EBI"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11585",
                "gene_name": "transducin beta like 1 X-linked",
                "omim_gene": [
                    "300196"
                ],
                "alias_name": null,
                "gene_symbol": "TBL1X",
                "hgnc_symbol": "TBL1X",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:9431335-9687780",
                            "ensembl_id": "ENSG00000101849"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:9463295-9719743",
                            "ensembl_id": "ENSG00000101849"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2002-05-24"
            },
            "entity_type": "gene",
            "entity_name": "TBL1X",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "27603907",
                "30591955"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "isolated mild-moderate central hypothyroidism",
                "Hypothyroidism, congenital, nongoitrous, 8, 301033"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
            "tags": [
                "missense"
            ],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "TGN",
                    "AITD3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11764",
                "gene_name": "thyroglobulin",
                "omim_gene": [
                    "188450"
                ],
                "alias_name": null,
                "gene_symbol": "TG",
                "hgnc_symbol": "TG",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "8:133879203-134147147",
                            "ensembl_id": "ENSG00000042832"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "8:132866958-133134903",
                            "ensembl_id": "ENSG00000042832"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "TG",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "23164529",
                "27525530 (Nicholas et al.,2016) identify a monogenic and polygenic basis of disease."
            ],
            "evidence": [
                "Expert Review Green",
                "Eligibility statement prior genetic testing",
                "UKGTN"
            ],
            "phenotypes": [
                "Congenital hypothyroidism",
                "Thyroid dyshormonogenesis 3,  274700",
                "TDH3",
                "low thyroglobulin, goitre"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "monogenic-polygenic"
            ],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "EAR-7.1/EAR-7.2",
                    "THRA3",
                    "AR7",
                    "ERBA",
                    "NR1A1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11796",
                "gene_name": "thyroid hormone receptor, alpha",
                "omim_gene": [
                    "190120"
                ],
                "alias_name": null,
                "gene_symbol": "THRA",
                "hgnc_symbol": "THRA",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:38214543-38250120",
                            "ensembl_id": "ENSG00000126351"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:40058290-40093867",
                            "ensembl_id": "ENSG00000126351"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "THRA",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "22168587",
                "23940126",
                "24847459",
                "27381958",
                "22168587",
                "22494134",
                "23940126",
                "2567082",
                "27144938"
            ],
            "evidence": [
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN"
            ],
            "phenotypes": [
                "Congenital hypothyroidism or thyroid agenesis",
                "Hypothyroidism, Congenital, Nongoitrous, 6, 614450",
                "Hypothyroidism, congenital, nongoitrous, 6, 614450",
                "Resistance to thyroid hormone",
                "skeletal dysplasia",
                "growth retardation",
                "macrocephaly",
                "neurodevelopmental delay",
                "constipation",
                "delayed dentition",
                "macrocytic anaemia"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [
                "treatable"
            ],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "THRB1",
                    "THRB2",
                    "NR1A2",
                    "THR1",
                    "ERBA-BETA",
                    "GRTH"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11799",
                "gene_name": "thyroid hormone receptor beta",
                "omim_gene": [
                    "190160"
                ],
                "alias_name": [
                    "avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2",
                    "oncogene ERBA2",
                    "generalized resistance to thyroid hormone",
                    "thyroid hormone receptor beta 1"
                ],
                "gene_symbol": "THRB",
                "hgnc_symbol": "THRB",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:24158651-24536773",
                            "ensembl_id": "ENSG00000151090"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:24117160-24495282",
                            "ensembl_id": "ENSG00000151090"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1988-08-31"
            },
            "entity_type": "gene",
            "entity_name": "THRB",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "24847459"
            ],
            "evidence": [
                "Expert Review Green"
            ],
            "phenotypes": [
                "Resistance to thyroid hormone (RTH)",
                "THYROID HORMONE UNRESPONSIVENESS",
                "145650",
                "REFETOFF SYNDROME",
                "PRTH",
                "Thyroid hormone resistance, autosomal recessive, 274300",
                "Refetoff syndrome",
                "THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY",
                "thyroid hormone unresponsiveness, generalized RTH, RTH beta",
                "Thyroid hormone resistance, 188570",
                "THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT",
                "THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE",
                "Thyroid Hormone Resistance (monoallelic)",
                "Thyroid hormone resistance, selective pituitary, 145650",
                "HYPERTHYROIDISM, FAMILIAL, DUE TO INAPPROPRIATE THYROTROPIN SECRETION",
                "GRTH",
                "Thyroid Hormone Resistance, Selective Pituitary",
                "THYROID HORMONE UNRESPONSIVENESS HYPERTHYROXINEMIA, FAMILIAL EUTHYROID, SECONDARY TO PITUITARY AND PERIPHERAL RESISTANCE TO THYROID HORMONES"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [
                "treatable"
            ],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "TPX"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12015",
                "gene_name": "thyroid peroxidase",
                "omim_gene": [
                    "606765"
                ],
                "alias_name": null,
                "gene_symbol": "TPO",
                "hgnc_symbol": "TPO",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:1377995-1547483",
                            "ensembl_id": "ENSG00000115705"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:1374223-1543711",
                            "ensembl_id": "ENSG00000115705"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "TPO",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "12938097",
                "8027236",
                "8964831",
                "11061528",
                "27525530 (Nicholas et al.,2016) identify a monogenic basis of disease",
                "27166716"
            ],
            "evidence": [
                "Expert Review Green",
                "Eligibility statement prior genetic testing",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "phenotypes": [
                "Congenital hypothyroidism",
                "Thyroid dyshormonogenesis 2A,  274500",
                "TDH2A",
                "Iodide organification defect",
                "goitre"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "monogenic-polygenic"
            ],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12299",
                "gene_name": "thyrotropin releasing hormone receptor",
                "omim_gene": [
                    "188545"
                ],
                "alias_name": null,
                "gene_symbol": "TRHR",
                "hgnc_symbol": "TRHR",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "8:110098850-110131813",
                            "ensembl_id": "ENSG00000174417"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "8:109086621-109119584",
                            "ensembl_id": "ENSG00000174417"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-11-08"
            },
            "entity_type": "gene",
            "entity_name": "TRHR",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "PMID: 9141550",
                "PMID: 19213692"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "mild-moderate isolated central hypothyroidism",
                "absent TSH and prolactin response to TRH",
                "Thyrotropin-releasing hormone resistance, generalized"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12372",
                "gene_name": "thyroid stimulating hormone beta",
                "omim_gene": [
                    "188540"
                ],
                "alias_name": null,
                "gene_symbol": "TSHB",
                "hgnc_symbol": "TSHB",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:115572415-115576941",
                            "ensembl_id": "ENSG00000134200"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:115029824-115034309",
                            "ensembl_id": "ENSG00000134200"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "TSHB",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "2792087",
                "27362444"
            ],
            "evidence": [
                "Expert Review Green",
                "Other",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "phenotypes": [
                "Congenital hypothyroidism",
                "Hypothryoidism, congenital, nongoitrous 4, 275100",
                "severe isolated central hypothyroidism"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "LGR3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12373",
                "gene_name": "thyroid stimulating hormone receptor",
                "omim_gene": [
                    "603372"
                ],
                "alias_name": null,
                "gene_symbol": "TSHR",
                "hgnc_symbol": "TSHR",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:81421333-81612646",
                            "ensembl_id": "ENSG00000165409"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "14:80954989-81146302",
                            "ensembl_id": "ENSG00000165409"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1990-03-05"
            },
            "entity_type": "gene",
            "entity_name": "TSHR",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "7528344",
                "22876533",
                "PMID:17526952 (Kanda et al., 2006) examine Japanese patients homozygous and heterozygous for the R450H mutation in the TSHR gene. Homozygous subjects displayed mild hypothyroidism/ Heterozygous patients also demonstrated hypothyroidism, but less severe than that of homozygous subjects.",
                "PMID:14725684 (Park et al. 2004) suggest that heterozygosity for an inactivating TSHR mutation may be associated with compensated hypothyroidism and thyroid hypoplasia",
                "16060907 (Camilot et al., 2005 report subclinical hypothyroid subjects with heterozygous substitutions",
                "27525530 (Nicholas et al.,2016) identify a monogenic basis of disease."
            ],
            "evidence": [
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "Eligibility statement prior genetic testing",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "phenotypes": [
                "Congenital hypothyroidism",
                "Hypothyroidism, Congenital, Nongoitrous, 1, 275200",
                "Hypothyroidism, congenital, nongoitrous, 1 275200",
                "TSH resistance",
                "thyroid hypoplasia",
                "subclinical hypothyroidism",
                "thyroid dysgenesis",
                "eutopic gland-in-situ",
                "compensated hypothryoidism"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ12042",
                    "MESRGP",
                    "BOR",
                    "DasraB"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14629",
                "gene_name": "cell division cycle associated 8",
                "omim_gene": [
                    "609977"
                ],
                "alias_name": [
                    "borealin"
                ],
                "gene_symbol": "CDCA8",
                "hgnc_symbol": "CDCA8",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:38158090-38175391",
                            "ensembl_id": "ENSG00000134690"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:37692418-37709719",
                            "ensembl_id": "ENSG00000134690"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2002-04-03"
            },
            "entity_type": "gene",
            "entity_name": "CDCA8",
            "confidence_level": "2",
            "penetrance": "unknown",
            "mode_of_pathogenicity": "Other",
            "publications": [
                "28025328",
                "29546359"
            ],
            "evidence": [
                "Expert Review Amber",
                "NHS GMS",
                "Expert Review",
                "Literature"
            ],
            "phenotypes": [
                "Congenital hypothyroidism",
                "thyroid dysgenesis",
                "No OMIM number"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CSX1",
                    "NKX2.5",
                    "NKX4-1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2488",
                "gene_name": "NK2 homeobox 5",
                "omim_gene": [
                    "600584"
                ],
                "alias_name": [
                    "tinman paralog (Drosophila)"
                ],
                "gene_symbol": "NKX2-5",
                "hgnc_symbol": "NKX2-5",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:172659112-172662360",
                            "ensembl_id": "ENSG00000183072"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:173232109-173235357",
                            "ensembl_id": "ENSG00000183072"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2002-10-04"
            },
            "entity_type": "gene",
            "entity_name": "NKX2-5",
            "confidence_level": "2",
            "penetrance": "Incomplete",
            "mode_of_pathogenicity": "Other - please provide details in the comments",
            "publications": [
                "16418214"
            ],
            "evidence": [
                "Expert Review Amber",
                "Radboud University Medical Center, Nijmegen",
                "Other"
            ],
            "phenotypes": [
                "Hypothyroidism, congenital nongoitrous, 5, 225250",
                "thyrioid ectopy, thyroid agenesis, congenital heart disease"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "dJ543J19.4"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:16257",
                "gene_name": "tubulin beta 1 class VI",
                "omim_gene": [
                    "612901"
                ],
                "alias_name": [
                    "class VI beta-tubulin"
                ],
                "gene_symbol": "TUBB1",
                "hgnc_symbol": "TUBB1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "20:57594309-57601709",
                            "ensembl_id": "ENSG00000101162"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "20:59019254-59026654",
                            "ensembl_id": "ENSG00000101162"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-07-17"
            },
            "entity_type": "gene",
            "entity_name": "TUBB1",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "30446499"
            ],
            "evidence": [
                "Expert Review Amber",
                "East of England GLH"
            ],
            "phenotypes": [
                "Primary congenital hypothyroidism, thyroid dysgenesis, macroplatelets"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "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": [
                "12428212",
                "15800844",
                "26416826 (2015 review)"
            ],
            "evidence": [
                "Expert Review Red",
                "Literature"
            ],
            "phenotypes": [
                "Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123",
                "Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252",
                "Panhypopituitarism, X-linked, OMIM:312000",
                "Panhypopituitarism, X-linked, MONDO:0010712"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "tags": [],
            "transcript": null
        }
    ],
    "strs": [],
    "regions": [
        {
            "gene_data": null,
            "entity_type": "region",
            "entity_name": "ISCA-37404-Loss",
            "verbose_name": "15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "haploinsufficiency_score": "3",
            "triplosensitivity_score": "",
            "required_overlap_percentage": 80,
            "type_of_variants": "cnv_loss",
            "publications": [
                "22045295",
                "7611294"
            ],
            "evidence": [
                "Expert Review Amber",
                "ClinGen"
            ],
            "phenotypes": [
                "microcephaly",
                "105834",
                "Developmental delay, muscle weakness",
                "Mental retardation",
                "Angelman syndrome",
                "176270",
                "Prader-Willi syndrome"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "chromosome": "15",
            "grch37_coordinates": null,
            "grch38_coordinates": [
                22782170,
                28134729
            ],
            "tags": []
        },
        {
            "gene_data": null,
            "entity_type": "region",
            "entity_name": "ISCA-37478-Loss",
            "verbose_name": "15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "haploinsufficiency_score": "3",
            "triplosensitivity_score": "",
            "required_overlap_percentage": 80,
            "type_of_variants": "cnv_loss",
            "publications": [
                "22045295",
                "7611294"
            ],
            "evidence": [
                "Expert Review Amber",
                "ClinGen"
            ],
            "phenotypes": [
                "microcephaly",
                "Developmental delay, muscle weakness",
                "Mental retardation",
                "Angelman syndrome",
                "176270",
                "Prader-Willi syndrome",
                "105830"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "chromosome": "15",
            "grch37_coordinates": null,
            "grch38_coordinates": [
                23513243,
                28312040
            ],
            "tags": []
        }
    ]
}