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

2 reviews

Ellen McDonagh (Genomics England Curator)

To expand the scope of the Congenital hypothyroidism panel, this gene was added and the version changed to 1.8. This gene and information originates from the Hyperthyroidism panel (Version 1.6, code 236). This addition was approved by the Genomics England Clinical Team.
Created: 19 Dec 2018, 1:23 p.m.
Added the 'treatable' tag to this gene, after feedback from Krish Chatterjee and Carla Moran, Institute of Metabolic Science, Cambridge; TRIAC (a thyroid hormone analogue) can be used as a treatment for resistance to thyroid hormone beta due to THRB defects: Comment imported from Hyperthyroidism panel.
Created: 8 Aug 2018, 7:51 a.m.

Louise Daugherty (Genomics England Curator)

Report variants in this gene as part of diagnostic practice : Metabolic Research Laboratories, Institute of Metabolic Science, University of Cambridge (From expert review Krishna Chatterjee and Carla Moran)
Created: 15 Mar 2017, 4:50 p.m.
Comment when marking as ready: gene has been assessed for involvement in Resistance to thyroid hormone according to expert reviews and further curation
Created: 15 Mar 2017, 3:48 p.m.

Variants in this GENE are reported as part of current diagnostic practice

Details

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

History Filter Activity

19 Dec 2018, Gel status: 4

Added Tag

Ellen McDonagh (Genomics England Curator)

Tag treatable tag was added to gene: THRB.

19 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: THRB was added gene: THRB was added to Congenital hypothyroidism. Sources: Expert Review Green 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 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