Hyperthyroidism
Gene: TTREnsemblGeneIds (GRCh38): ENSG00000118271
EnsemblGeneIds (GRCh37): ENSG00000118271
OMIM: 176300, Gene2Phenotype
TTR is in 19 panels
1 review
Anna Le Fevre (Victorian Clinical Genetics Services)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Genomics England PanelApp
- Phenotypes
-
- DTTRH
- [Dystransthyretinemic hyperthyroxinemia], 145680
- OMIM
- 176300
- Clinvar variants
- Variants in TTR
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
-
- Stroke
- Hyperthyroidism
- Cardiomyopathy_Paediatric
- Hereditary Neuropathy - complex
- Lymphoedema_syndromic
- BabyScreen+ newborn screening
- Vasculitis
- Intellectual disability syndromic and non-syndromic
- Transplant Co-Morbidity Superpanel
- Regression
- Early-onset Dementia
- Additional findings_Paediatric
- Additional findings_Adult
- Amyloidosis
- Mendeliome
- Hereditary Spastic Paraplegia - paediatric
- Cerebral amyloid angiopathy
- Pain syndromes
- Hypertrophic cardiomyopathy_HCM
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ttr has been classified as Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: TTR were set to 31590893; 26522458
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