Hyperthyroidism
Gene: THRAEnsemblGeneIds (GRCh38): ENSG00000126351
EnsemblGeneIds (GRCh37): ENSG00000126351
OMIM: 190120, Gene2Phenotype
THRA is in 7 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Comment when marking as ready: Included in this panel as TFTs potentially suggestive of hyperthyroidism – elevated T3, non-suppressed TSH, even though the associated condition is hypothyroidism.Created: 28 Sep 2020, 6:28 a.m. | Last Modified: 28 Sep 2020, 6:28 a.m.
Panel Version: 0.14
Anna Le Fevre (Victorian Clinical Genetics Services)
The altered THRα is thought to act in a dominant-negative fashion and inhibit wild-type THRα.
ClinGen review: no evidence for haploinsufficiency.
The phenotype is variable, but consistent with manifestations of untreated congenital hypothyroidism in peripheral tissues. Clinical features may be mild.
The HPT axis in patients carrying pathogenic variants in THRA is minimally affected. Patients have circulating TSH levels within the normal range, slightly lowered levels of free T4 and slightly elevated levels of total T3, which results in an abnormally low free T4:T3 ratio.Created: 26 Sep 2020, 3:11 a.m. | Last Modified: 26 Sep 2020, 3:11 a.m.
Panel Version: 0.4
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
#190120 THYROID HORMONE RECEPTOR, ALPHA-1
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Genomics England PanelApp
- Phenotypes
-
- Hypothyroidism, congenital, nongoitrous, 6 614450
- OMIM
- 190120
- Clinvar variants
- Variants in THRA
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: thra has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: thra has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: THRA were changed from Resistance to Thyroid Hormone due to defective thyroid receptor alpha (RTHa); Hypothyroidism, congenital, nongoitrous, 6, 614450; congenital nongoitrous hypothyroidism 6; RTH alpha; HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; Resistance to thyroid hormone alpha; CHNG6 to Hypothyroidism, congenital, nongoitrous, 6 614450
Set mode of pathogenicity
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of pathogenicity for gene: THRA was changed from to Other
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: THRA was added gene: THRA was added to Hyperthyroidism. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: THRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: THRA were set to 24847459; 27144938; 22168587; 23940126; 2567082; 22494134; 27381958 Phenotypes for gene: THRA were set to Resistance to Thyroid Hormone due to defective thyroid receptor alpha (RTHa); Hypothyroidism, congenital, nongoitrous, 6, 614450; congenital nongoitrous hypothyroidism 6; RTH alpha; HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; Resistance to thyroid hormone alpha; CHNG6