Pain syndromes
Gene: TTR

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

3 reviews

Ellen McDonagh (Genomics England Curator)

The 'treatable' tag has been added due to new therapies available that target this gene. Inotersen is an antisense oligonucleotide inhibitor of mutant and wild-type human transthyretin (TTR), developed and approved by NICE for the treatment of hereditary transthyretin amyloidosis (hATTR) (PMID: 30120737, https://www.nice.org.uk/guidance/hst9/chapter/1-Recommendations) Patisiran is a small interfering RNA (siRNA) molecule that targets the transthyretin gene (TTR) messenger mRNA (mRNA), to suppress both mutant and wild-type amyloid transthyretin (ATTR) protein production. This drug has been approved by NHSE for treatment of transthyretin-mediated amyloidosis (https://www.bbc.co.uk/news/health-48907976)
Created: 9 Jul 2019, 12:40 p.m. | Last Modified: 9 Jul 2019, 12:40 p.m.

Panel Version: 1.5

Phenotypes
Amyloidosis, hereditary, transthyretin-related 105210

Publications

Created: 9 Jul 2019, 12:40 p.m.
Last Modified: 9 Jul 2019, 12:40 p.m.
Panel version: 1.5

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

also known as HEREDITARY AMYLOIDOSIS, TRANSTHYRETIN-RELATED. The neuropathic form of transthyretin amyloidosis primarily affects the peripheral and autonomic nervous systems, resulting in peripheral neuropathy and difficulty controlling bodily functions.
Created: 9 Jul 2017, 4:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Amyloidosis, hereditary, transthyretin-related; 105210; Familial amyloid polyneuropathy; Carpal tunnel syndrome, familial; 115430

Publications

28678039
26800456
25069833
12771253
19365058
16433699
8309582
The Metabolic and Molecular Bases of Inherited Disease. Vol. IV. 8th ed.Benson, M. D. Amyloidosis. In: Scriver, C. R et al.: New York: McGraw-Hill . 2001.

Created: 9 Jul 2017, 4:30 p.m.

Panel version: 0.3

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Hereditary amyloidosis

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 9 Jul 2017, 4:30 p.m.

Panel version: 0.3

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green

Phenotypes

Hereditary amyloidosis
Amyloidosis, hereditary, transthyretin-related, 105210
Familial amyloid polyneuropathy
Carpal tunnel syndrome, familial, 115430

Tags

treatable

OMIM

176300

Clinvar variants

Variants in TTR

Penetrance

Complete

Publications

3011930
14640030
28678039
26800456
25069833
12771253
19365058
16433699
8309582
The Metabolic and Molecular Bases of Inherited Disease. Vol. IV. 8th ed.Benson, M. D. Amyloidosis. In: Scriver, C. R et al.: New York: McGraw-Hill . 2001
30878017
31131842
31118583
31111153
30120737

Panels with this gene

History Filter Activity

9 Jul 2019, Gel status: 3

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: TTR were set to 3011930; 14640030; 28678039; 26800456; 25069833; 12771253; 19365058; 16433699; 8309582; The Metabolic and Molecular Bases of Inherited Disease. Vol. IV. 8th ed.Benson, M. D. Amyloidosis. In: Scriver, C. R et al.: New York: McGraw-Hill . 2001.

9 Jul 2019, Gel status: 3

Added Tag

Ellen McDonagh (Genomics England Curator)

Tag treatable tag was added to gene: TTR.

19 Sep 2017, Gel status: 4