Hyperthyroidism
Gene: TTREnsemblGeneIds (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)
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
david halsall (Cambridge University Hospitals Trust)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- [Dystransthyretinemic hyperthyroxinemia], 145680
- DTTRH
- OMIM
- 176300
- Clinvar variants
- Variants in TTR
- Penetrance
- unknown
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
-
- Hereditary neuropathy
- Dilated Cardiomyopathy and conduction defects
- Adult onset leukodystrophy
- Periodic fever syndromes
- Hyperthyroidism
- Hereditary systemic amyloidosis
- Adult onset neurodegenerative disorder
- Familial dysautonomia
- Hydrocephalus
- Progressive cardiac conduction disease
- Pain syndromes
- Hypertrophic cardiomyopathy
- Paediatric or syndromic cardiomyopathy
- Paroxysmal central nervous system disorders
- Hereditary neuropathy or pain disorder
- Primary lymphoedema
- Intellectual disability
History Filter Activity
Removed Tag
Ivone Leong (Genomics England Curator)Tag for-review was removed from gene: TTR.
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to TTR. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: ttr has been classified as Amber List (Moderate Evidence).
Added Tag
Arina Puzriakova (Genomics England Curator)Tag for-review tag was added to gene: TTR.
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: ttr has been classified as Green List (High Evidence).
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: TTR were changed from # 145680 HYPERTHYROXINEMIA, DYSTRANSTHYRETINEMIC; DTTRH to [Dystransthyretinemic hyperthyroxinemia], 145680; DTTRH
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: TTR were set to PMID: 31590893; 26522458
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