Hyperthyroidism
Gene: THRB
Phenotypes
Resistance to Thyroid Hormone beta
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.
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 curationCreated: 15 Mar 2017, 3:48 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Source Expert list was added to THRB.
Panel reviews were assessed, and panel was revised according to expert reviews and further curation
This gene has been classified as Green List (High Evidence).
THRB was added to Resistance to thyroid hormonepanel. Sources: Eligibility statement prior genetic testing
THRB was added to Resistance to thyroid hormonepanel. Source: Other Model of inheritance for gene THRB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
THRB was added to Resistance to thyroid hormonepanel. Source: Illumina TruGenome Clinical Sequencing Services
THRB was added to Resistance to thyroid hormonepanel. Source: Radboud University Medical Center, Nijmegen
THRB was added to Resistance to thyroid hormonepanel. Source: UKGTN
THRB was added to Resistance to thyroid hormonepanel. Sources: Literature
THRB was created by LouiseD