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  2. Congenital hypothyroidism
  3. THRB
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Congenital hypothyroidism

Gene: THRB

Green List (high evidence)
THRB (thyroid hormone receptor beta)
EnsemblGeneIds (GRCh38): ENSG00000151090
EnsemblGeneIds (GRCh37): ENSG00000151090
OMIM: 190160, Gene2Phenotype
THRB is in 7 panels

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Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Genomics England PanelApp
  • Expert Review Green
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
OMIM
190160
Clinvar variants
Variants in THRB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Feb 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: THRB was added gene: THRB was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: THRB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: THRB were set to 24847459 Phenotypes for gene: THRB were set to 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