Hyperthyroidism
Gene: THRA
Phenotypes
Resistance to Thyroid Hormone alpha
Added the 'treatable' tag to this gene, after feedback from Krish Chatterjee and Carla Moran, Institute of Metabolic Science, Cambridge; thyroxine can be used as a treatment for resistance to thyroid hormone alpha due to THRA defects.Created: 8 Aug 2018, 7:49 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 on publications: From reviewer recommendation PMID:27381958 added Resistance to Thyroid Hormone α-Emerging Definition of a Disorder of Thyroid Hormone Action by Carla Moran and Krishna Chatterjee. J Clin Endocrinol Metab. 2016 Jul;101(7):2636-9. doi: 10.1210/jc.2016-2317.Created: 15 Mar 2017, 4:44 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, 3:47 p.m.
Comment on list classification: Changed status from Red to Green due to evidence in the literature and expert review commentsCreated: 15 Mar 2017, 3:26 p.m.
Comment on publications: PMID: 27144938 large case study that shows the variation in the clinical phenotype of RTHα patients. RTHα should be suspected in subjects when even mild clinical and laboratory features of hypothyroidism are present along with high/high-normal free T3, low/normal free T4, and normal TSH.Created: 15 Mar 2017, 3:24 p.m.
Comment on publications: To date more than 10 unrelated families (15 affecteds) with THRA defects giving rise to resistance to thyroid hormone alpha have been described. Examples include: PMID:22168587 (1 affected), 22494134 (1 family, 2 affecteds), 23940126 (1 affected, 25670821 (5 unrelated affecteds); 27144938 (3 unrelated families, 10 affecteds)Created: 15 Mar 2017, 3:22 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Source Expert list was added to THRA.
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).
This gene has been classified as Green List (High Evidence).
Publications for THRA were set to 24847459; 27381958; 22168587; 22494134; 23940126; 2567082; 27144938
Publications for THRA were set to 24847459;27381958;22168587;22494134;23940126;25670821
Publications for THRA were set to 24847459;27381958
THRA was added to Resistance to thyroid hormonepanel. Sources: Eligibility statement prior genetic testing
Phenotypes for gene THRA were set to RTH alpha; congenital nongoitrous hypothyroidism 6;Resistance to thyroid hormone alpha; Resistance to Thyroid Hormone due to defective thyroid receptor alpha (RTHa);Hypothyroidism, congenital, nongoitrous, 6, 614450;HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6
THRA was added to Resistance to thyroid hormonepanel. Source: Other
THRA was added to Resistance to thyroid hormonepanel. Source: Radboud University Medical Center, Nijmegen
THRA was added to Resistance to thyroid hormonepanel. Sources: Literature
THRA was created by LouiseD