Pain syndromes

Gene: TTR

Green List (high evidence)

TTR (transthyretin)
EnsemblGeneIds (GRCh38): ENSG00000118271
EnsemblGeneIds (GRCh37): ENSG00000118271
OMIM: 176300, Gene2Phenotype
TTR is in 16 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

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

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

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
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

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

19th September 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.

19 Sep 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for TTR were set to Hereditary amyloidosis; Amyloidosis, hereditary, transthyretin-related, 105210; Familial amyloid polyneuropathy; Carpal tunnel syndrome, familial, 115430

9 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for TTR were set to Hereditary amyloidosis;Amyloidosis, hereditary, transthyretin-related; 105210; Familial amyloid polyneuropathy; Carpal tunnel syndrome, familial; 115430

9 Jul 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

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.

9 Jul 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

TTR was added to Pain syndromespanel. Sources: BRIDGE Study Tier 1 Gene

9 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

TTR was created by BRIDGE