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{
"id": 236,
"name": "Hyperthyroidism",
"strs": [],
"genes": [
{
"tags": [],
"evidence": [
"Expert Review Green",
"Expert list"
],
"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": {
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"ensembl_id": "ENSG00000163631"
}
},
"GRch38": {
"90": {
"location": "4:73397114-73421412",
"ensembl_id": "ENSG00000163631"
}
}
},
"hgnc_date_symbol_changed": "2006-06-30"
},
"penetrance": null,
"phenotypes": [
"Familial dysalbuminaemic hyperthyroxinaemia",
"[Dysalbuminemic hyperthyroxinemia], 615999"
],
"transcript": null,
"entity_name": "ALB",
"entity_type": "gene",
"publications": [
"29163366",
"8064810",
"24646103",
"27834068"
],
"confidence_level": "3",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert list",
"Expert Review Green",
"Eligibility statement prior genetic testing",
"Other",
"Radboud University Medical Center, Nijmegen",
"Literature"
],
"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"
},
"penetrance": "Complete",
"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"
],
"transcript": null,
"entity_name": "SECISBP2",
"entity_type": "gene",
"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"
],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [
"treatable"
],
"evidence": [
"Expert list",
"Expert Review Green",
"Eligibility statement prior genetic testing",
"Other",
"Emory Genetics Laboratory",
"Radboud University Medical Center, Nijmegen",
"UKGTN",
"Literature"
],
"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"
},
"penetrance": "Complete",
"phenotypes": [
"Monocarboxylate transporter 8 (MCT8) defect",
"Allan-Herndon-Dudley syndrome",
"Allan_Herndon_Dudley Syndrome",
"AHDS",
"300523",
"Allan-Herndon-Dudley syndrome, 300523",
"Allan-Herndon-Dudley Syndrome",
"ALLAN-HERNDON-DUDLEY SYNDROME",
"ALLAN-HERNDON SYNDROME",
"MONOCARBOXYLATE TRANSPORTER 8 DEFICIENCY",
"TRIIODOTHYRONINE RESISTANCE",
"T3 RESISTANCE",
"MENTAL RETARDATION, X-LINKED, WITH HYPOTONIA",
"MENTAL RETARDATION AND MUSCULAR ATROPHY",
"mental retardation, X-linked, with hypotonia",
"MCT8 (SLC16A2)-specific thyroid hormone cell transporter deficiency",
"monocarboxylate transporter 8 (MCT8) deficiency"
],
"transcript": null,
"entity_name": "SLC16A2",
"entity_type": "gene",
"publications": [
"24847459"
],
"confidence_level": "3",
"mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"mode_of_pathogenicity": ""
},
{
"tags": [
"treatable"
],
"evidence": [
"Expert list",
"Expert Review Green",
"Eligibility statement prior genetic testing",
"Other",
"Radboud University Medical Center, Nijmegen",
"Literature"
],
"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"
},
"penetrance": "Complete",
"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"
],
"transcript": null,
"entity_name": "THRA",
"entity_type": "gene",
"publications": [
"24847459",
"27381958",
"22168587",
"22494134",
"23940126",
"2567082",
"27144938"
],
"confidence_level": "3",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"mode_of_pathogenicity": ""
},
{
"tags": [
"treatable"
],
"evidence": [
"Expert list",
"Expert Review Green",
"Eligibility statement prior genetic testing",
"Other",
"Illumina TruGenome Clinical Sequencing Services",
"Radboud University Medical Center, Nijmegen",
"UKGTN",
"Literature"
],
"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"
},
"penetrance": "Complete",
"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"
],
"transcript": null,
"entity_name": "THRB",
"entity_type": "gene",
"publications": [
"24847459"
],
"confidence_level": "3",
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"Expert list"
],
"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"
},
"penetrance": null,
"phenotypes": [
"Congenital, nonautoimmune hyperthyroidism",
"Hyperthyroidism, nonautoimmune, 609152"
],
"transcript": null,
"entity_name": "TSHR",
"entity_type": "gene",
"publications": [],
"confidence_level": "3",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"mode_of_pathogenicity": ""
},
{
"tags": [
"locus-type-rna-transfer"
],
"evidence": [
"Expert Review Red",
"Eligibility statement prior genetic testing",
"Expert list"
],
"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"
},
"penetrance": "Complete",
"phenotypes": [],
"transcript": null,
"entity_name": "TRU-TCA1-1",
"entity_type": "gene",
"publications": [],
"confidence_level": "1",
"mode_of_inheritance": "Unknown",
"mode_of_pathogenicity": ""
}
],
"stats": {
"number_of_strs": 0,
"number_of_genes": 7,
"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."
}
],
"status": "public",
"hash_id": "576cd44c8f6203609632be80",
"regions": [],
"version": "2.2",
"disease_group": "Endocrine disorders",
"version_created": "2020-02-19T16:46:54.032233Z",
"disease_sub_group": "Thyroid disorders",
"relevant_disorders": [
"Resistance to thyroid hormone",
"R182"
],
"signed_off": "2020-02-19"
}