Congenital hypothyroidism (Version 1.0)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 66 Entitiess
Green Green List (high evidence)	CDCA8	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Disease associations Congenital hypothyroidism, MONDO:0018612, CDCA8-related Tags
Green Green List (high evidence)	DNAJC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome, MONDO:0014523 Tags
Green Green List (high evidence)	DUOX2	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Disease associations Thyroid dyshormonogenesis 6, 607200 Tags treatable
Green Green List (high evidence)	DUOXA2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Disease associations Thyroid dyshormonogenesis 5, 274900 Tags
Green Green List (high evidence)	FOXA2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Disease associations Hypopituitarism, MONDO:0005152 Hyperinsulinism, MONDO:0002177 Tags
Green Green List (high evidence)	FOXE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Disease associations Bamforth Lazarus syndrome, MIM#241850 (hypothyroidism) Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate, 241850 Tags
Green Green List (high evidence)	GATA6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Pancreatic agenesis and congenital heart defects, OMIM# 600001 Tags
Green Green List (high evidence)	GLIS3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Disease associations Diabetes mellitus, neonatal, with congenital hypothyroidism, MIM# 610199 Tags
Green Green List (high evidence)	GNAS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Genomics England PanelApp Disease associations Pseudohypoparathyroidism Ia, MIM#103580 (Hypothyroidism) Tags
Green Green List (high evidence)	HESX1	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Disease associations Pituitary hormone deficiency, combined, 5, MIM# 182230 Tags
Green Green List (high evidence)	IGSF1	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genomics England PanelApp Disease associations Hypothyroidism, central, and testicular enlargement, MIM# 300888 Tags
Green Green List (high evidence)	IRS4	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Disease associations Hypothyroidism, congenital, nongoitrous, 9, MIM# 301035 Tags
Green Green List (high evidence)	Angelman and Prader-Willi syndromes, Class 2 BP2-BP3 deletions ISCA-37478-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Disease associations Angelman syndrome, MIM# 105830 Prader-Willi syndrome, MIM# 176270 Tags SV/CNV
Green Green List (high evidence)	IYD	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Disease associations Thyroid dyshormonogenesis 4, MIM# 274800 Tags
Green Green List (high evidence)	JAG1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Literature Disease associations Alagille syndrome, MIM#118450 Tags
Green Green List (high evidence)	KCNQ1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Disease associations Hypopituitarism, MONDO:0005152 Tags
Green Green List (high evidence)	KMT2D	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Disease associations Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome (BCAHH), MIM#620186 Tags
Green Green List (high evidence)	LHX3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Disease associations Pituitary hormone deficiency, combined, 3, 221750 sensorineural deafness GH, TSH, LH, FSH, PRL deficiency limited neck rotation short cervical spine anterior pituitary may be normal, hypoplastic or enlarged Tags treatable
Green Green List (high evidence)	LHX4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Disease associations anterior pituitary hypoplasia GH, TSH, ACTH, variable gonadotrophin deficiencies etopic posterior pituitary Pituitary hormone deficiency, combined, 4, 262700 cerebellar abnormalities Tags treatable
Green Green List (high evidence)	NKX2-1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction, 610978 Tags
Green Green List (high evidence)	NKX2-5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Disease associations Hypothyroidism, congenital nongoitrous, 5, 225250 thyrioid ectopy, thyroid agenesis, congenital heart disease Tags
Green Green List (high evidence)	OTX2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Disease associations Pituitary hormone deficiency, combined, 6, MIM# 613986 Tags
Green Green List (high evidence)	PAX8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Disease associations Hypothyroidism, Congenital, Nongoitrous, 2, 218700 thyroid dysgenesis Congenital hypothyroidism thyroid hypoplasia Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700 eutopic gland-in-situ urogenital tract malformations Tags
Green Green List (high evidence)	POMC	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Obesity, adrenal insufficiency, and red hair due to POMC deficiency MIM#609734 Tags
Green Green List (high evidence)	POU1F1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Disease associations congenital hypothyroidism Pituitary hormone deficiency, combined, 1, 613038 (Hypopthyroidism) Tags
Green Green List (high evidence)	PRKAR1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Disease associations Acrodysostosis, mild hormone resistance (TSH, PTH, GPCR-cAMP signalling hormones Acrodysostosis 1, with or without hormone resistance, 101800 Tags
Green Green List (high evidence)	PROP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Disease associations 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 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 Pituitary hormone deficiency, combined, 2, 262600 Tags
Green Green List (high evidence)	RNPC3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Growth hormone deficiency Intellectual disability Tags
Green Green List (high evidence)	SECISBP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Disease associations Thyroid hormone metabolism, abnormal, MIM# 609698 Tags
Green Green List (high evidence)	SGPL1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations RENI syndrome (MIM#617575) Tags
Green Green List (high evidence)	SLC16A2	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Disease associations Allan-Herndon-Dudley syndrome, MIM# 300523 Tags
Green Green List (high evidence)	SLC26A4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Disease associations enlarged vestibular aqueduct Sensorineural deafness partial iodide organification defect mild hypothyroidism Pendred syndrome, 274600 (congenital deafness and thyroid goitre) goitre Mondini defect Tags
Green Green List (high evidence)	SLC26A7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Disease associations Congenital hypothyroidism, MONDO:0018612, SLC26A7-related Tags
Green Green List (high evidence)	SLC5A5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Disease associations Apparent athyreosis on nuclear medicine scan childhood onset hypothyroidism goitre Thyroid dyshormonogenesis 1, 274400 HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 1 Tags
Green Green List (high evidence)	SOX3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Disease associations Panhypopituitarism, X-linked, MONDO:0010712 Panhypopituitarism, X-linked, OMIM:312000 Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252 Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123 Tags
Green Green List (high evidence)	SOX3_PHPX_GCN STR	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Disease associations Intellectual disability, X-linked, with isolated growth hormone deficiency MIM#300123 Panhypopituitarism, X-linked MIM#312000 Tags paediatric-onset
Green Green List (high evidence)	TBCE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations hypoparathyroidism-retardation-dysmorphism syndrome, MONDO:0009426 Tags
Green Green List (high evidence)	TBL1X	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genomics England PanelApp Literature Disease associations isolated mild-moderate central hypothyroidism Hypothyroidism, congenital, nongoitrous, 8, 301033 Tags
Green Green List (high evidence)	TG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Disease associations Congenital hypothyroidism Thyroid dyshormonogenesis 3, 274700 TDH3 low thyroglobulin, goitre Tags
Green Green List (high evidence)	THRA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Disease associations Congenital hypothyroidism or thyroid agenesis delayed dentition macrocephaly Hypothyroidism, Congenital, Nongoitrous, 6, 614450 Hypothyroidism, congenital, nongoitrous, 6, 614450 neurodevelopmental delay Resistance to thyroid hormone constipation skeletal dysplasia growth retardation macrocytic anaemia Tags
Green Green List (high evidence)	THRB	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Disease associations HYPERTHYROIDISM, FAMILIAL, DUE TO INAPPROPRIATE THYROTROPIN SECRETION THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT Thyroid hormone resistance, autosomal recessive, 274300 Thyroid Hormone Resistance, Selective Pituitary Resistance to thyroid hormone (RTH) 145650 PRTH REFETOFF SYNDROME THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY thyroid hormone unresponsiveness, generalized RTH, RTH beta Thyroid Hormone Resistance (monoallelic) Thyroid hormone resistance, 188570 Thyroid hormone resistance, selective pituitary, 145650 THYROID HORMONE UNRESPONSIVENESS THYROID HORMONE UNRESPONSIVENESS HYPERTHYROXINEMIA, FAMILIAL EUTHYROID, SECONDARY TO PITUITARY AND PERIPHERAL RESISTANCE TO THYROID HORMONES Refetoff syndrome GRTH Tags
Green Green List (high evidence)	TPO	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Disease associations Congenital hypothyroidism Iodide organification defect goitre TDH2A Thyroid dyshormonogenesis 2A, 274500 Tags
Green Green List (high evidence)	TRHR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Disease associations Hypothyroidism, congenital, nongoitrous, 7, MIM# 618573 Tags
Green Green List (high evidence)	TSHB	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Disease associations Congenital hypothyroidism Hypothryoidism, congenital, nongoitrous 4, 275100 severe isolated central hypothyroidism Tags
Green Green List (high evidence)	TSHR	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Disease associations Hypothyroidism, congenital, nongoitrous, 1 275200 thyroid dysgenesis Congenital hypothyroidism thyroid hypoplasia compensated hypothryoidism subclinical hypothyroidism Hypothyroidism, Congenital, Nongoitrous, 1, 275200 eutopic gland-in-situ TSH resistance Tags
Green Green List (high evidence)	UBR7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Li-Campeau syndrome, MIM# 619189 Intellectual disability epilepsy hypothyroidism congenital anomalies dysmorphic features Tags
Green Green List (high evidence)	ZBTB26	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Congenital hypothyroidism MONDO:0018612 Tags
Amber Amber List (moderate evidence)	CDC42	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Congenital hypothyroidism, MONDO:0018612 Tags
Amber Amber List (moderate evidence)	CNTN6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations congenital hypothyroidism MONDO:0018612 Tags
Amber Amber List (moderate evidence)	DUOXA1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations congenital hypothyroidism, No OMIM # Tags
Amber Amber List (moderate evidence)	FOXP3	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Victorian Clinical Genetics Services Disease associations Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 Tags treatable
Amber Amber List (moderate evidence)	GBP1	1 review	Unknown	Sources Expert Review Amber Literature Disease associations Congenital hypothyroidism, MONDO:0018612 Tags
Amber Amber List (moderate evidence)	NSD1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Disease associations Sotos syndrome, MONDO:0019349 Tags
Amber Amber List (moderate evidence)	NTN1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Thyroid ectopia with hypothyroidism Tags
Amber Amber List (moderate evidence)	NUDCD2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Multiple congenital anomalies (MONDO:0019042), NUDCD2-related Tags
Amber Amber List (moderate evidence)	TANGO2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Disease associations Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, MIM# 616878 Tags
Amber Amber List (moderate evidence)	TRPC4AP	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber Literature Disease associations Thyroid hypoplasia, MONDO:0019861, TRPC4AP-related Tags
Amber Amber List (moderate evidence)	TTF1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations congenital hypothyroidism, thyroid dysgenesis, No OMIM # Tags
Amber Amber List (moderate evidence)	TUBB1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genomics England PanelApp Disease associations Macrothrombocytopenia, autosomal dominant, TUBB1-related, OMIM # 613112 Primary congenital hypothyroidism, thyroid dysgenesis, macroplatelets Tags
Red Red List (low evidence)	AKT3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Disease associations overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes, MONDO:0100283 Tags
Red Red List (low evidence)	DUOX1	2 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations congenital hypothyroidism, No OMIM # Tags
Red Red List (low evidence)	H1-4	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Disease associations Rahman syndrome, MIM# 617537 Tags
Red Red List (low evidence)	MAMLD1	1 review 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Literature Disease associations Congenital hypothyroidism MONDO:0018612 Tags
Red Red List (low evidence)	NNT	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Congenital hypothyroidism, MONDO:0018612 Tags
Red Red List (low evidence)	OTUD6B	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, OMIM #617452 Tags
Red Red List (low evidence)	TTF2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations congenital hypothyroidism, thyroid dysgenesis, No OMIM # Tags

Congenital hypothyroidism (Version 1.0)

12 reviewers

66 Entities

66 reviewed, 47 green

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