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{
"id": 31,
"name": "Congenital hypothyroidism",
"strs": [],
"genes": [
{
"tags": [
"monogenic-polygenic"
],
"evidence": [
"Expert Review Green",
"Eligibility statement prior genetic testing",
"UKGTN",
"Illumina TruGenome Clinical Sequencing Services"
],
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"alias": [
"P138-TOX",
"P138(TOX)",
"THOX2",
"LNOX2"
],
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"hgnc_id": "HGNC:13273",
"gene_name": "dual oxidase 2",
"omim_gene": [
"606759"
],
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"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"
],
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"hgnc_symbol": "DUOX2",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
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},
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"ensembl_id": "ENSG00000140279"
}
}
},
"hgnc_date_symbol_changed": "2000-11-09"
},
"penetrance": "Complete",
"phenotypes": [
"Congenital hypothyroidism",
"Thryoid dyshormonogenesis 6, 607200",
"permanent congenital hypothyroidism",
"transient congenital hypothyroidism",
"eutopic gland-in-situ",
"goitre",
"borderline congenital hypothyroidism",
"iodide organification defect"
],
"transcript": null,
"entity_name": "DUOX2",
"entity_type": "gene",
"publications": [
"12110737",
"24423310",
"16134168",
"27525530 (Nicholas et al.,2016) identify a monogenic and digenic basis of disease",
"27166716"
],
"confidence_level": "3",
"mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [
"monogenic-polygenic",
"deletions"
],
"evidence": [
"Expert Review Green",
"Other"
],
"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"
},
"penetrance": "Complete",
"phenotypes": [
"Thyroid dyshormonogenesis 5, 274900",
"HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 5",
"eutopic gland-in-situ",
"mild congenital hypothyroidism",
"transient congenital hypothyroidism"
],
"transcript": null,
"entity_name": "DUOXA2",
"entity_type": "gene",
"publications": [
"18042646",
"21367925",
"28100324",
"26758695",
"27349010"
],
"confidence_level": "3",
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"Eligibility statement prior genetic testing",
"UKGTN",
"Emory Genetics Laboratory"
],
"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": {
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"ensembl_id": "ENSG00000178919"
}
}
},
"hgnc_date_symbol_changed": "1997-02-14"
},
"penetrance": "Complete",
"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"
],
"transcript": null,
"entity_name": "FOXE1",
"entity_type": "gene",
"publications": [
"9697705",
"20484477",
"9697704 (mouse model)",
"24219130 (gain-of-function mutation)"
],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": "Other - please provide details in the comments"
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"UKGTN",
"Illumina TruGenome Clinical Sequencing Services",
"Radboud University Medical Center, Nijmegen"
],
"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"
},
"penetrance": "Complete",
"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"
],
"transcript": null,
"entity_name": "GLIS3",
"entity_type": "gene",
"publications": [
"26259131",
"16715098"
],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"Eligibility statement prior genetic testing"
],
"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"
},
"penetrance": "Complete",
"phenotypes": [
"Pseudohypoparathyroidism Ia, 103580 (Hypothyroidism)"
],
"transcript": null,
"entity_name": "GNAS",
"entity_type": "gene",
"publications": [
"17299070",
"23412865",
"27922245"
],
"confidence_level": "3",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"Literature"
],
"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"
},
"penetrance": "Incomplete",
"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"
],
"transcript": null,
"entity_name": "HESX1",
"entity_type": "gene",
"publications": [
"9620767",
"11136712",
"26416826 (2015 review)"
],
"confidence_level": "3",
"mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"Literature"
],
"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"
},
"penetrance": "Complete",
"phenotypes": [
"central hypothyroidism",
"hypoprolactinaemia",
"GH deficiency",
"macroorchidism",
"Hypothyroidism, central, and testicular enlargement, 300888"
],
"transcript": null,
"entity_name": "IGSF1",
"entity_type": "gene",
"publications": [
"23143598",
"26840047",
"27762734",
"24108313 (reports that a subset of female carriers show central hypothyroidism)."
],
"confidence_level": "3",
"mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"East of England GLH"
],
"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"
},
"penetrance": null,
"phenotypes": [
"Congenital central hypothyroidism"
],
"transcript": null,
"entity_name": "IRS4",
"entity_type": "gene",
"publications": [
"30061370",
"10644546"
],
"confidence_level": "3",
"mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"Other",
"Illumina TruGenome Clinical Sequencing Services"
],
"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"
},
"penetrance": "Complete",
"phenotypes": [
"Congenital hypothyroidism",
"Thyroid dyshormonogenesis 4, 274800",
"goitre",
"childhood/adolescent onset hypothyroidism",
"normal iodide organification",
"raised urinary MIT and DIT"
],
"transcript": null,
"entity_name": "IYD",
"entity_type": "gene",
"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"
],
"confidence_level": "3",
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"Literature"
],
"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"
},
"penetrance": "Complete",
"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"
],
"transcript": null,
"entity_name": "LHX3",
"entity_type": "gene",
"publications": [
"10835633",
"26416826 (2015 review)",
"21249393",
"18407919"
],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"Literature"
],
"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"
},
"penetrance": "Complete",
"phenotypes": [
"GH, TSH, ACTH, variable gonadotrophin deficiencies",
"cerebellar abnormalities",
"anterior pituitary hypoplasia",
"etopic posterior pituitary",
"Pituitary hormone deficiency, combined, 4, 262700"
],
"transcript": null,
"entity_name": "LHX4",
"entity_type": "gene",
"publications": [
"11567216",
"26416826 (2015 review)",
"25955177"
],
"confidence_level": "3",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"Other",
"Illumina TruGenome Clinical Sequencing Services",
"Radboud University Medical Center, Nijmegen",
"UKGTN"
],
"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"
},
"penetrance": "Complete",
"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"
],
"transcript": null,
"entity_name": "NKX2-1",
"entity_type": "gene",
"publications": [
"24714694",
"11854319"
],
"confidence_level": "3",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"mode_of_pathogenicity": ""
},
{
"tags": [
"missense"
],
"evidence": [
"Expert Review Green",
"Literature"
],
"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"
},
"penetrance": "Complete",
"phenotypes": [
"GH, TSH, ACTH, LH, FSH deficiency",
"Anophthalmia Retinal dystrophy",
"normal or hypoplastic anterior pituitary",
"ectopic posterior pituitary",
"Pituitary hormone deficiency, combined, 6, 613986"
],
"transcript": null,
"entity_name": "OTX2",
"entity_type": "gene",
"publications": [
"18628516",
"26416826 (2015 review)"
],
"confidence_level": "3",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"Radboud University Medical Center, Nijmegen",
"UKGTN",
"Emory Genetics Laboratory",
"Illumina TruGenome Clinical Sequencing Services"
],
"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"
},
"penetrance": "Incomplete",
"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"
],
"transcript": null,
"entity_name": "PAX8",
"entity_type": "gene",
"publications": [
"PMID:23647375",
"PMID:9590296"
],
"confidence_level": "3",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"Other"
],
"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"
},
"penetrance": "Complete",
"phenotypes": [
"Pituitary hormone deficiency, combined, 1, 613038 (Hypopthyroidism)",
"congenital hypothyroidism"
],
"transcript": null,
"entity_name": "POU1F1",
"entity_type": "gene",
"publications": [
"26416826",
"11297581",
"16060904"
],
"confidence_level": "3",
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"mode_of_pathogenicity": "Other - please provide details in the comments"
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"Literature"
],
"gene_data": {
"alias": [
"CNC1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:9388",
"gene_name": "protein kinase cAMP-dependent type I regulatory subunit alpha",
"omim_gene": [
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],
"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"
},
"penetrance": "Complete",
"phenotypes": [
"Acrodysostosis, mild hormone resistance (TSH, PTH, GPCR-cAMP signalling hormones",
"Acrodysostosis 1, with or without hormone resistance, 101800"
],
"transcript": null,
"entity_name": "PRKAR1A",
"entity_type": "gene",
"publications": [
"21651393",
"22464250"
],
"confidence_level": "3",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"mode_of_pathogenicity": "Other - please provide details in the comments"
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"Literature"
],
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:9455",
"gene_name": "PROP paired-like homeobox 1",
"omim_gene": [
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"alias_name": null,
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"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"
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}
},
"hgnc_date_symbol_changed": "1998-02-02"
},
"penetrance": "Complete",
"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"
],
"transcript": null,
"entity_name": "PROP1",
"entity_type": "gene",
"publications": [
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"15126542",
"15472175",
"26416826 (2015 review)",
"23652424",
"16984240"
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"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Green"
],
"gene_data": {
"alias": [
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],
"biotype": "protein_coding",
"hgnc_id": "HGNC:30972",
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"omim_gene": [
"607693"
],
"alias_name": [
"Sec insertion sequence-binding protein 2"
],
"gene_symbol": "SECISBP2",
"hgnc_symbol": "SECISBP2",
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"ensembl_genes": {
"GRch37": {
"82": {
"location": "9:91933421-91974557",
"ensembl_id": "ENSG00000187742"
}
},
"GRch38": {
"90": {
"location": "9:89318506-89359662",
"ensembl_id": "ENSG00000187742"
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}
},
"hgnc_date_symbol_changed": "2004-05-10"
},
"penetrance": null,
"phenotypes": [
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"Selenocysteine insertion sequence binding protein 2 (SBP2) defect",
"Abnormal thyroid hormone metabolism",
"Thyroid hormone metabolism, abnormal, 609698",
"THYROID HORMONE METABOLISM, ABNORMAL"
],
"transcript": null,
"entity_name": "SECISBP2",
"entity_type": "gene",
"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"
],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [
"treatable"
],
"evidence": [
"Expert Review Green"
],
"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"
},
"penetrance": null,
"phenotypes": [
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"MCT8 (SLC16A2)-specific thyroid hormone cell transporter deficiency",
"monocarboxylate transporter 8 (MCT8) deficiency",
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"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"
],
"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",
"monogenic-polygenic"
],
"evidence": [
"Expert Review Green",
"Eligibility statement prior genetic testing",
"Other"
],
"gene_data": {
"alias": [
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],
"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"
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}
},
"hgnc_date_symbol_changed": "1997-10-27"
},
"penetrance": "Complete",
"phenotypes": [
"Pendred syndrome, 274600 (congenital deafness and thyroid goitre)",
"Sensorineural deafness",
"enlarged vestibular aqueduct",
"Mondini defect",
"partial iodide organification defect",
"goitre",
"mild hypothyroidism"
],
"transcript": null,
"entity_name": "SLC26A4",
"entity_type": "gene",
"publications": [
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"11932316"
],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"East of England GLH"
],
"gene_data": {
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],
"biotype": "protein_coding",
"hgnc_id": "HGNC:14467",
"gene_name": "solute carrier family 26 member 7",
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],
"alias_name": [
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],
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"hgnc_symbol": "SLC26A7",
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"ensembl_genes": {
"GRch37": {
"82": {
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}
},
"GRch38": {
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}
},
"hgnc_date_symbol_changed": "2001-01-25"
},
"penetrance": null,
"phenotypes": [
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],
"transcript": null,
"entity_name": "SLC26A7",
"entity_type": "gene",
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"30333321"
],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Green",
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],
"gene_data": {
"alias": [
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],
"biotype": "protein_coding",
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"gene_name": "solute carrier family 5 member 5",
"omim_gene": [
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"GRch37": {
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"ensembl_id": "ENSG00000105641"
}
},
"GRch38": {
"90": {
"location": "19:17871973-17895174",
"ensembl_id": "ENSG00000105641"
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}
},
"hgnc_date_symbol_changed": "1997-04-16"
},
"penetrance": "Complete",
"phenotypes": [
"Thyroid dyshormonogenesis 1, 274400",
"HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 1",
"Apparent athyreosis on nuclear medicine scan",
"goitre",
"childhood onset hypothyroidism"
],
"transcript": null,
"entity_name": "SLC5A5",
"entity_type": "gene",
"publications": [
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"16418213"
],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [
"missense"
],
"evidence": [
"Expert Review Green",
"Literature"
],
"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"
},
"penetrance": "Complete",
"phenotypes": [
"isolated mild-moderate central hypothyroidism",
"Hypothyroidism, congenital, nongoitrous, 8, 301033"
],
"transcript": null,
"entity_name": "TBL1X",
"entity_type": "gene",
"publications": [
"27603907",
"30591955"
],
"confidence_level": "3",
"mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"mode_of_pathogenicity": ""
},
{
"tags": [
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],
"evidence": [
"Expert Review Green",
"Eligibility statement prior genetic testing",
"UKGTN"
],
"gene_data": {
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"AITD3"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11764",
"gene_name": "thyroglobulin",
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"hgnc_symbol": "TG",
"hgnc_release": "2017-11-03T00:00:00",
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"GRch37": {
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"location": "8:133879203-134147147",
"ensembl_id": "ENSG00000042832"
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},
"GRch38": {
"90": {
"location": "8:132866958-133134903",
"ensembl_id": "ENSG00000042832"
}
}
},
"hgnc_date_symbol_changed": "2001-06-22"
},
"penetrance": "Complete",
"phenotypes": [
"Congenital hypothyroidism",
"Thyroid dyshormonogenesis 3, 274700",
"TDH3",
"low thyroglobulin, goitre"
],
"transcript": null,
"entity_name": "TG",
"entity_type": "gene",
"publications": [
"23164529",
"27525530 (Nicholas et al.,2016) identify a monogenic and polygenic basis of disease."
],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [
"treatable"
],
"evidence": [
"Expert Review Green",
"Radboud University Medical Center, Nijmegen",
"UKGTN"
],
"gene_data": {
"alias": [
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"THRA3",
"AR7",
"ERBA",
"NR1A1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11796",
"gene_name": "thyroid hormone receptor, alpha",
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],
"alias_name": null,
"gene_symbol": "THRA",
"hgnc_symbol": "THRA",
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"ensembl_genes": {
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"location": "17:38214543-38250120",
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}
},
"GRch38": {
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"location": "17:40058290-40093867",
"ensembl_id": "ENSG00000126351"
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}
},
"hgnc_date_symbol_changed": "2001-06-22"
},
"penetrance": "Complete",
"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"
],
"transcript": null,
"entity_name": "THRA",
"entity_type": "gene",
"publications": [
"22168587",
"23940126",
"24847459",
"27381958",
"22168587",
"22494134",
"23940126",
"2567082",
"27144938"
],
"confidence_level": "3",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"mode_of_pathogenicity": ""
},
{
"tags": [
"treatable"
],
"evidence": [
"Expert Review Green"
],
"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"
},
"penetrance": null,
"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"
],
"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": [
"monogenic-polygenic"
],
"evidence": [
"Expert Review Green",
"Eligibility statement prior genetic testing",
"UKGTN",
"Illumina TruGenome Clinical Sequencing Services"
],
"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"
},
"penetrance": "Complete",
"phenotypes": [
"Congenital hypothyroidism",
"Thyroid dyshormonogenesis 2A, 274500",
"TDH2A",
"Iodide organification defect",
"goitre"
],
"transcript": null,
"entity_name": "TPO",
"entity_type": "gene",
"publications": [
"12938097",
"8027236",
"8964831",
"11061528",
"27525530 (Nicholas et al.,2016) identify a monogenic basis of disease",
"27166716"
],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"Literature"
],
"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"
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},
"GRch38": {
"90": {
"location": "8:109086621-109119584",
"ensembl_id": "ENSG00000174417"
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}
},
"hgnc_date_symbol_changed": "1993-11-08"
},
"penetrance": "Complete",
"phenotypes": [
"mild-moderate isolated central hypothyroidism",
"absent TSH and prolactin response to TRH",
"Thyrotropin-releasing hormone resistance, generalized"
],
"transcript": null,
"entity_name": "TRHR",
"entity_type": "gene",
"publications": [
"PMID: 9141550",
"PMID: 19213692"
],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"Other",
"Illumina TruGenome Clinical Sequencing Services"
],
"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"
},
"penetrance": "Complete",
"phenotypes": [
"Congenital hypothyroidism",
"Hypothryoidism, congenital, nongoitrous 4, 275100",
"severe isolated central hypothyroidism"
],
"transcript": null,
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"publications": [
"2792087",
"27362444"
],
"confidence_level": "3",
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"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"Radboud University Medical Center, Nijmegen",
"Eligibility statement prior genetic testing",
"UKGTN",
"Illumina TruGenome Clinical Sequencing Services"
],
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],
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],
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"82": {
"location": "14:81421333-81612646",
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}
},
"GRch38": {
"90": {
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"ensembl_id": "ENSG00000165409"
}
}
},
"hgnc_date_symbol_changed": "1990-03-05"
},
"penetrance": "Complete",
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"Hypothyroidism, Congenital, Nongoitrous, 1, 275200",
"Hypothyroidism, congenital, nongoitrous, 1 275200",
"TSH resistance",
"thyroid hypoplasia",
"subclinical hypothyroidism",
"thyroid dysgenesis",
"eutopic gland-in-situ",
"compensated hypothryoidism"
],
"transcript": null,
"entity_name": "TSHR",
"entity_type": "gene",
"publications": [
"7528344",
"22876533",
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"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."
],
"confidence_level": "3",
"mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Amber",
"NHS GMS",
"Expert Review",
"Literature"
],
"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"
],
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"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"
},
"penetrance": "unknown",
"phenotypes": [
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"thyroid dysgenesis",
"No OMIM number"
],
"transcript": null,
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"entity_type": "gene",
"publications": [
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"29546359"
],
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"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"mode_of_pathogenicity": "Other"
},
{
"tags": [],
"evidence": [
"Expert Review Amber",
"Radboud University Medical Center, Nijmegen",
"Other"
],
"gene_data": {
"alias": [
"CSX1",
"NKX2.5",
"NKX4-1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:2488",
"gene_name": "NK2 homeobox 5",
"omim_gene": [
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],
"alias_name": [
"tinman paralog (Drosophila)"
],
"gene_symbol": "NKX2-5",
"hgnc_symbol": "NKX2-5",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
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"location": "5:172659112-172662360",
"ensembl_id": "ENSG00000183072"
}
},
"GRch38": {
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"ensembl_id": "ENSG00000183072"
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}
},
"hgnc_date_symbol_changed": "2002-10-04"
},
"penetrance": "Incomplete",
"phenotypes": [
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"thyrioid ectopy, thyroid agenesis, congenital heart disease"
],
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"entity_name": "NKX2-5",
"entity_type": "gene",
"publications": [
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],
"confidence_level": "2",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"mode_of_pathogenicity": "Other - please provide details in the comments"
},
{
"tags": [],
"evidence": [
"Expert Review Amber",
"East of England GLH"
],
"gene_data": {
"alias": [
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],
"biotype": "protein_coding",
"hgnc_id": "HGNC:16257",
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"omim_gene": [
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],
"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"
},
"penetrance": null,
"phenotypes": [
"Primary congenital hypothyroidism, thyroid dysgenesis, macroplatelets"
],
"transcript": null,
"entity_name": "TUBB1",
"entity_type": "gene",
"publications": [
"30446499"
],
"confidence_level": "2",
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"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Red",
"Literature"
],
"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"
},
"penetrance": "Complete",
"phenotypes": [
"GH,TSH, ACTH, LH, FSH deficiency, variable mental retardation, undescended posterior pituitary, anterior pituitary hypoplasia, or persistence of the craniopharyngeal canal"
],
"transcript": null,
"entity_name": "SOX3",
"entity_type": "gene",
"publications": [
"12428212",
"15800844",
"26416826 (2015 review)"
],
"confidence_level": "1",
"mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"mode_of_pathogenicity": ""
}
],
"stats": {
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"number_of_genes": 34,
"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."
}
],
"status": "public",
"hash_id": "5763f2938f620350a1996046",
"regions": [
{
"tags": [],
"evidence": [
"Expert Review Amber",
"ClinGen"
],
"gene_data": null,
"chromosome": "15",
"penetrance": null,
"phenotypes": [
"microcephaly",
"105834",
"Developmental delay, muscle weakness",
"Mental retardation",
"Angelman syndrome",
"176270",
"Prader-Willi syndrome"
],
"entity_name": "ISCA-37404-Loss",
"entity_type": "region",
"publications": [
"22045295",
"7611294"
],
"verbose_name": "15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss",
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22782170,
28134729
],
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"mode_of_pathogenicity": null,
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},
{
"tags": [],
"evidence": [
"Expert Review Amber",
"ClinGen"
],
"gene_data": null,
"chromosome": "15",
"penetrance": null,
"phenotypes": [
"microcephaly",
"Developmental delay, muscle weakness",
"Mental retardation",
"Angelman syndrome",
"176270",
"Prader-Willi syndrome",
"105830"
],
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"entity_type": "region",
"publications": [
"22045295",
"7611294"
],
"verbose_name": "15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss",
"confidence_level": "2",
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"grch37_coordinates": null,
"grch38_coordinates": [
23513243,
28312040
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"mode_of_pathogenicity": null,
"triplosensitivity_score": "",
"haploinsufficiency_score": "3",
"required_overlap_percentage": 80
}
],
"version": "2.2",
"disease_group": "Endocrine disorders",
"version_created": "2020-02-25T10:03:00.850654Z",
"disease_sub_group": "Thyroid disorders",
"relevant_disorders": [
"Congenital hypothyroidism or thyroid agenesis",
"R145"
],
"signed_off": "2020-02-25"
}