Hyperthyroidism
Gene: THRB

THRB (thyroid hormone receptor beta)
EnsemblGeneIds (GRCh38): ENSG00000151090
EnsemblGeneIds (GRCh37): ENSG00000151090
OMIM: 190160, Gene2Phenotype
THRB is in 8 panels

3 reviews

krishna chatterjee (Institute of Metabolic Science, University of Cambridge)

Green List (high evidence)

Phenotypes
Resistance to Thyroid Hormone beta

Created: 11 Jul 2019, 12:43 p.m.
Last Modified: 11 Jul 2019, 12:43 p.m.
Panel version: 1.8

Ellen McDonagh (Genomics England Curator)

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.
Created: 8 Aug 2018, 7:51 a.m.

Created: 8 Aug 2018, 7:51 a.m.

Panel version: 1.4

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

Created: 15 Mar 2017, 12:23 p.m.

Panel version: 0.15

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert list
Expert Review Green
Eligibility statement prior genetic testing
Other
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen
UKGTN
Literature

Phenotypes

Resistance to thyroid hormone (RTH)
thyroid hormone unresponsiveness, generalized RTH, RTH beta
Refetoff syndrome
Thyroid Hormone Resistance, Selective Pituitary
PRTH
145650
Thyroid hormone resistance, 188570
Thyroid hormone resistance, autosomal recessive, 274300
Thyroid hormone resistance, selective pituitary, 145650
Thyroid Hormone Resistance (monoallelic)
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
GRTH
THYROID HORMONE UNRESPONSIVENESS HYPERTHYROXINEMIA, FAMILIAL EUTHYROID, SECONDARY TO PITUITARY AND PERIPHERAL RESISTANCE TO THYROID HORMONES
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE
THYROID HORMONE UNRESPONSIVENESS
REFETOFF SYNDROME
THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY
HYPERTHYROIDISM, FAMILIAL, DUE TO INAPPROPRIATE THYROTROPIN SECRETION

Tags

treatable

OMIM

190160

Clinvar variants

Variants in THRB

Penetrance

Complete

Publications

24847459

Panels with this gene

History Filter Activity

11 Jul 2019, Gel status: 3

Added New Source

Ivone Leong (Genomics England Curator)

Source Expert list was added to THRB.

15 Mar 2017, Gel status: 4