Hyperthyroidism

Gene: TTR

Green List (high evidence)

TTR (transthyretin)
EnsemblGeneIds (GRCh38): ENSG00000118271
EnsemblGeneIds (GRCh37): ENSG00000118271
OMIM: 176300, Gene2Phenotype
TTR is in 19 panels

1 review

Anna Le Fevre (Victorian Clinical Genetics Services)

Green List (high evidence)

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; CTS1
Created: 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

History Filter Activity

26 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ttr has been classified as Green List (High Evidence).

26 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TTR were set to 31590893; 26522458

21 Sep 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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