Hyperthyroidism

Gene: TTR

Amber List (moderate evidence)

TTR (transthyretin)
EnsemblGeneIds (GRCh38): ENSG00000118271
EnsemblGeneIds (GRCh37): ENSG00000118271
OMIM: 176300, Gene2Phenotype
TTR is in 17 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Comment 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

Ivone Leong (Genomics England Curator)

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

david halsall (Cambridge University Hospitals Trust)

Green List (high evidence)

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: Literature
Created: 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

History Filter Activity

20 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: ttr has been classified as Amber List (Moderate Evidence).

20 Oct 2020, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: TTR.

5 May 2020, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

5 May 2020, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: TTR were changed from # 145680 HYPERTHYROXINEMIA, DYSTRANSTHYRETINEMIC; DTTRH to [Dystransthyretinemic hyperthyroxinemia], 145680; DTTRH

5 May 2020, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: TTR were set to PMID: 31590893; 26522458

30 Mar 2020, Gel status: 0

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

david halsall (Cambridge University Hospitals Trust)

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