Hyperthyroidism
Gene: THRA

THRA (thyroid hormone receptor, alpha)
EnsemblGeneIds (GRCh38): ENSG00000126351
EnsemblGeneIds (GRCh37): ENSG00000126351
OMIM: 190120, Gene2Phenotype
THRA is in 6 panels

3 reviews

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

Green List (high evidence)

Phenotypes
Resistance to Thyroid Hormone alpha

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; 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.

Created: 8 Aug 2018, 7:49 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 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 curation
Created: 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 comments
Created: 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

Created: 15 Mar 2017, 12:19 p.m.

Panel version: 0.15

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert list
Expert Review Green
Eligibility statement prior genetic testing
Other
Radboud University Medical Center, Nijmegen
Literature

Phenotypes

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

Tags

treatable

OMIM

190120

Clinvar variants

Variants in THRA

Penetrance

Complete

Publications

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 THRA.

15 Mar 2017, Gel status: 4