PanelApp
  1. Panels
  2. Congenital hypothyroidism
Description
This panel contains genes associated with congenital hypothyroidism

With thanks to Genomics England PanelApp for the original design of this panel.
Panel Activity

3 reviewers

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

  • Chirag Patel (Genetic Health Queensland)

  • Bryony Thompson (Royal Melbourne Hospital)

41 Entities

23 reviewed, 34 green

List Entity Reviews Mode of inheritance Details
41 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
Phenotypes
  • Congenital hypothyroidism, MONDO:0018612, CDCA8-related
Tags
Green Green List (high evidence)
DUOX2
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • 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
Phenotypes
  • Thyroid dyshormonogenesis 5, 274900
Tags
Green Green List (high evidence)
FOXE1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Bamforth Lazarus syndrome, MIM#241850 (hypothyroidism)
  • Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate, 241850
Tags
Green Green List (high evidence)
GLIS3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • Hypothyroidism, congenital, nongoitrous, 9, MIM# 301035
Tags
Green Green List (high evidence)
IYD
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • childhood/adolescent onset hypothyroidism
  • Thyroid dyshormonogenesis 4, 274800
  • normal iodide organification
  • Congenital hypothyroidism
  • raised urinary MIT and DIT
  • goitre
Tags
Green Green List (high evidence)
KMT2D
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome (BCAHH), MIM#620186
Tags
Green Green List (high evidence)
LHX3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • 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
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • 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
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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)
POU1F1
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • congenital hypothyroidism
  • Pituitary hormone deficiency, combined, 1, 613038 (Hypopthyroidism)
Tags
Green Green List (high evidence)
PRKAR1A
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • 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
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • 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)
SECISBP2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Thyroid hormone metabolism, abnormal, MIM# 609698
Tags
Green Green List (high evidence)
SLC16A2
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Allan-Herndon-Dudley syndrome, MIM# 300523
Tags
Green Green List (high evidence)
SLC26A4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • 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
Phenotypes
  • Congenital hypothyroidism, MONDO:0018612, SLC26A7-related
Tags
Green Green List (high evidence)
SLC5A5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • 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)
TBL1X
0 reviews
 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
Phenotypes
  • isolated mild-moderate central hypothyroidism
  • Hypothyroidism, congenital, nongoitrous, 8, 301033
Tags
Green Green List (high evidence)
TG
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Congenital hypothyroidism
  • Thyroid dyshormonogenesis 3, 274700
  • TDH3
  • low thyroglobulin, goitre
Tags
Green Green List (high evidence)
THRA
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • 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
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • 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
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • 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
Phenotypes
  • Hypothyroidism, congenital, nongoitrous, 7, MIM# 618573
Tags
Green Green List (high evidence)
TSHB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Congenital hypothyroidism
  • Hypothryoidism, congenital, nongoitrous 4, 275100
  • severe isolated central hypothyroidism
Tags
Green Green List (high evidence)
TSHR
0 reviews
 BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • 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)
TUBB1
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Macrothrombocytopenia, autosomal dominant, TUBB1-related, OMIM # 613112
  • Primary congenital hypothyroidism, thyroid dysgenesis, macroplatelets
Tags
Amber Amber List (moderate evidence)
CNTN6
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • 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
Phenotypes
  • congenital hypothyroidism, No OMIM #
Tags
Amber Amber List (moderate evidence)
GATA6
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Pancreatic agenesis and congenital heart defects, OMIM# 600001
Tags
Amber Amber List (moderate evidence)
TTF1
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • congenital hypothyroidism, thyroid dysgenesis, No OMIM #
Tags
Red Red List (low evidence)
DUOX1
2 reviews
1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • congenital hypothyroidism, No OMIM #
Tags
Red Red List (low evidence)
SOX3
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • 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
Red Red List (low evidence)
TTF2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • congenital hypothyroidism, thyroid dysgenesis, No OMIM #
Tags

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