Hyperthyroidism

Gene: THRA

Green List (high evidence)

THRA (thyroid hormone receptor, alpha)
EnsemblGeneIds (GRCh38): ENSG00000126351
EnsemblGeneIds (GRCh37): ENSG00000126351
OMIM: 190120, Gene2Phenotype
THRA is in 9 panels

3 reviews

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

Green List (high evidence)

Phenotypes
Resistance to Thyroid Hormone alpha

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.

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

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

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to expert reviews and further curation

15 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

15 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

15 Mar 2017, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for THRA were set to 24847459; 27381958; 22168587; 22494134; 23940126; 2567082; 27144938

15 Mar 2017, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for THRA were set to 24847459;27381958;22168587;22494134;23940126;25670821

14 Mar 2017, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for THRA were set to 24847459;27381958

14 Mar 2017, Gel status: 1

Upload gene information

Louise Daugherty (Genomics England Curator)

THRA was added to Resistance to thyroid hormonepanel. Sources: Eligibility statement prior genetic testing

16 Dec 2016, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

16 Dec 2016, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

THRA was added to Resistance to thyroid hormonepanel. Source: Other

16 Dec 2016, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

THRA was added to Resistance to thyroid hormonepanel. Source: Radboud University Medical Center, Nijmegen

16 Dec 2016, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

THRA was added to Resistance to thyroid hormonepanel. Sources: Literature

16 Dec 2016, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

THRA was created by LouiseD