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{
"id": 236,
"hash_id": "576cd44c8f6203609632be80",
"name": "Hyperthyroidism",
"disease_group": "Endocrine disorders",
"disease_sub_group": "Thyroid disorders",
"status": "public",
"version": "3.4",
"version_created": "2023-10-26T01:17:31.767548Z",
"relevant_disorders": [
"Resistance to thyroid hormone",
"R182"
],
"stats": {
"number_of_genes": 8,
"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 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": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:399",
"gene_name": "albumin",
"omim_gene": [
"103600"
],
"alias_name": null,
"gene_symbol": "ALB",
"hgnc_symbol": "ALB",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "4:74262831-74287129",
"ensembl_id": "ENSG00000163631"
}
},
"GRch38": {
"90": {
"location": "4:73397114-73421412",
"ensembl_id": "ENSG00000163631"
}
}
},
"hgnc_date_symbol_changed": "2006-06-30"
},
"entity_type": "gene",
"entity_name": "ALB",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"29163366",
"8064810",
"24646103",
"27834068",
"29676214"
],
"evidence": [
"Expert Review Green",
"Expert list"
],
"phenotypes": [
"Familial dysalbuminaemic hyperthyroxinaemia",
"[Dysalbuminemic hyperthyroxinemia], OMIM:615999",
"?[Dysalbuminemic hypertriiodothyroninemia], OMIM:615999"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"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": "2017-11-03T00:00:00",
"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": "Complete",
"mode_of_pathogenicity": "",
"publications": [
"24629861",
"22986150",
"22247018",
"21084748",
"20501692",
"19602558",
"16228000",
"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"
],
"evidence": [
"Expert list",
"Expert Review Green",
"Eligibility statement prior genetic testing",
"Other",
"Radboud University Medical Center, Nijmegen",
"Literature"
],
"phenotypes": [
"Abnormal thyroid hormone metabolism",
"Selenocysteine insertion sequence binding protein 2 (SBP2) defect",
"Thyroid hormone metabolism, abnormal, 609698",
"THYROID HORMONE METABOLISM, ABNORMAL",
"Short stature-delayed bone age due to thyroid hormone metabolism deficiency"
],
"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": "2017-11-03T00:00:00",
"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": "Complete",
"mode_of_pathogenicity": "",
"publications": [
"24847459"
],
"evidence": [
"Expert list",
"Expert Review Green",
"Eligibility statement prior genetic testing",
"Other",
"Emory Genetics Laboratory",
"Radboud University Medical Center, Nijmegen",
"UKGTN",
"Literature"
],
"phenotypes": [
"Allan-Herndon-Dudley syndrome, OMIM:300523"
],
"mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"tags": [
"treatable"
],
"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": [
"24847459",
"27381958",
"22168587",
"22494134",
"23940126",
"2567082",
"27144938"
],
"evidence": [
"Expert list",
"Expert Review Green",
"Eligibility statement prior genetic testing",
"Other",
"Radboud University Medical Center, Nijmegen",
"Literature"
],
"phenotypes": [
"RTH alpha",
"congenital nongoitrous hypothyroidism 6",
"Resistance to thyroid hormone alpha",
"Resistance to Thyroid Hormone due to defective thyroid receptor alpha (RTHa)",
"Hypothyroidism, congenital, nongoitrous, 6, 614450",
"HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6",
"CHNG6"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"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": "2017-11-03T00:00:00",
"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": "Complete",
"mode_of_pathogenicity": "",
"publications": [
"24847459"
],
"evidence": [
"Expert list",
"Expert Review Green",
"Eligibility statement prior genetic testing",
"Other",
"Illumina TruGenome Clinical Sequencing Services",
"Radboud University Medical Center, Nijmegen",
"UKGTN",
"Literature"
],
"phenotypes": [
"Resistance to thyroid hormone (RTH)",
"thyroid hormone unresponsiveness, generalized RTH, RTH beta",
"Refetoff syndrome",
"Thyroid Hormone Resistance, Selective Pituitary",
"PRTH",
"145650",
"Thyroid hormone resistance, 188570",
"Thyroid hormone resistance, autosomal recessive, 274300",
"Thyroid hormone resistance, selective pituitary, 145650",
"Thyroid Hormone Resistance (monoallelic)",
"THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT",
"GRTH",
"THYROID HORMONE UNRESPONSIVENESS HYPERTHYROXINEMIA, FAMILIAL EUTHYROID, SECONDARY TO PITUITARY AND PERIPHERAL RESISTANCE TO THYROID HORMONES",
"THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE",
"THYROID HORMONE UNRESPONSIVENESS",
"REFETOFF SYNDROME",
"THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY",
"HYPERTHYROIDISM, FAMILIAL, DUE TO INAPPROPRIATE THYROTROPIN SECRETION"
],
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"tags": [
"treatable"
],
"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": "2017-11-03",
"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": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Green",
"Expert list"
],
"phenotypes": [
"Congenital, nonautoimmune hyperthyroidism",
"Hyperthyroidism, nonautoimmune, 609152"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"HsT2651",
"CTS"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:12405",
"gene_name": "transthyretin",
"omim_gene": [
"176300"
],
"alias_name": null,
"gene_symbol": "TTR",
"hgnc_symbol": "TTR",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "18:29171689-29178974",
"ensembl_id": "ENSG00000118271"
}
},
"GRch38": {
"90": {
"location": "18:31591726-31599021",
"ensembl_id": "ENSG00000118271"
}
}
},
"hgnc_date_symbol_changed": "1986-01-01"
},
"entity_type": "gene",
"entity_name": "TTR",
"confidence_level": "3",
"penetrance": "unknown",
"mode_of_pathogenicity": "Other",
"publications": [
"31590893",
"26522458"
],
"evidence": [
"Expert Review Green",
"Literature"
],
"phenotypes": [
"[Dystransthyretinemic hyperthyroxinemia], 145680",
"DTTRH"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"tRNA(Sec)"
],
"biotype": null,
"hgnc_id": "HGNC:12348",
"gene_name": "transfer RNA-SeC (TCA) 1-1",
"omim_gene": [
"165060"
],
"alias_name": null,
"gene_symbol": "TRU-TCA1-1",
"hgnc_symbol": "TRU-TCA1-1",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {},
"hgnc_date_symbol_changed": "2014-06-19"
},
"entity_type": "gene",
"entity_name": "TRU-TCA1-1",
"confidence_level": "1",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Red",
"Eligibility statement prior genetic testing",
"Expert list"
],
"phenotypes": [],
"mode_of_inheritance": "Unknown",
"tags": [
"locus-type-rna-transfer",
"ensembl_ids_known_missing"
],
"transcript": null
}
],
"strs": [],
"regions": []
}