Hyperthyroidism
Gene: TTRComment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).Created: 20 Oct 2020, 3:12 p.m. | Last Modified: 20 Oct 2020, 3:12 p.m.
Panel Version: 2.7
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 2:04 p.m. | Last Modified: 3 Mar 2022, 2:04 p.m.
Panel Version: 2.13
Comment on list classification: Based on expert review by David Halsall (Cambridge University Hospitals Trust), there is enough evidence to support a gene-disease association for TTR. Therefore this gene has been given Green status.Created: 5 May 2020, 9:47 a.m. | Last Modified: 5 May 2020, 9:47 a.m.
Panel Version: 2.6
Specific gain of function sequence variants in TTE can cause method dependent factitious increases in serum free thyroxine when measured by commercial competive immunoassay methods. V30M, S77Y, I84S, V122I have been reported.
These varients need to be considered separately from loss of function at the locus which is associated with an amyloidogenic phenotype (familial transthyretin amyloidosis).
Sources: LiteratureCreated: 30 Mar 2020, 11:21 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
# 145680 HYPERTHYROXINEMIA, DYSTRANSTHYRETINEMIC; DTTRH
Publications
Mode of pathogenicity
Other
Tag for-review was removed from gene: TTR.
Source Expert Review Green was added to TTR. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: ttr has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: TTR.
Gene: ttr has been classified as Green List (High Evidence).
Phenotypes for gene: TTR were changed from # 145680 HYPERTHYROXINEMIA, DYSTRANSTHYRETINEMIC; DTTRH to [Dystransthyretinemic hyperthyroxinemia], 145680; DTTRH
Publications for gene: TTR were set to PMID: 31590893; 26522458
gene: TTR was added gene: TTR was added to Hyperthyroidism. Sources: Literature Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TTR were set to PMID: 31590893; 26522458 Phenotypes for gene: TTR were set to # 145680 HYPERTHYROXINEMIA, DYSTRANSTHYRETINEMIC; DTTRH Penetrance for gene: TTR were set to unknown Mode of pathogenicity for gene: TTR was set to Other Review for gene: TTR was set to GREEN