Pain syndromes
Gene: TTRThe '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
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
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.
Tag treatable tag was added to gene: TTR.
19th September 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.
Phenotypes for TTR were set to Hereditary amyloidosis; Amyloidosis, hereditary, transthyretin-related, 105210; Familial amyloid polyneuropathy; Carpal tunnel syndrome, familial, 115430
Phenotypes for TTR were set to Hereditary amyloidosis;Amyloidosis, hereditary, transthyretin-related; 105210; Familial amyloid polyneuropathy; Carpal tunnel syndrome, familial; 115430
Publications for 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.
This gene has been classified as Green List (High Evidence).
TTR was added to Pain syndromespanel. Sources: BRIDGE Study Tier 1 Gene
TTR was created by BRIDGE