Hyperthyroidism
Gene: THRAComment 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
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
Gene: thra has been classified as Green List (High Evidence).
Gene: thra has been classified as Green List (High Evidence).
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
Mode of pathogenicity for gene: THRA was changed from to Other
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