Hyperthyroidism
Gene: TTR
Gain of function mechanism.
Specific variants in TTR cause increased binding affinity for thyroid hormones. Immunoassay methods may show variably elevated free thyroid hormone levels. Individuals are euthyroid and identification is important to avoid unnecessary medical or surgical treatment.
Allelic conditions:
#105210 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
Autosomal dominant condition associated with loss of function variants in TTR.
#115430 CARPAL TUNNEL SYNDROME; CTS1Created: 26 Sep 2020, 1:27 a.m. | Last Modified: 26 Sep 2020, 1:27 a.m.
Panel Version: 0.3
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
# 145680 HYPERTHYROXINEMIA, DYSTRANSTHYRETINEMIC; DTTRH
Publications
Mode of pathogenicity
Other
Gene: ttr has been classified as Green List (High Evidence).
Publications for gene: TTR were set to 31590893; 26522458
gene: TTR was added gene: TTR was added to Hyperthyroidism. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TTR were set to 31590893; 26522458 Phenotypes for gene: TTR were set to DTTRH; [Dystransthyretinemic hyperthyroxinemia], 145680 Mode of pathogenicity for gene: TTR was set to Other