Primary lymphoedema
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, 12:50 p.m. | Last Modified: 9 Jul 2019, 12:50 p.m.

Panel Version: 1.81

Phenotypes
Amyloidosis, hereditary, transthyretin-related 105210

Publications

Created: 9 Jul 2019, 12:50 p.m.
Last Modified: 9 Jul 2019, 12:50 p.m.
Panel version: 1.81

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Phenotypes not relevant to this panel
Created: 1 Nov 2016, 4:02 p.m.

Comment on list classification: Expert review red
Created: 1 Nov 2016, 4:01 p.m.

Created: 1 Nov 2016, 4:01 p.m.

Panel version: 0.10

Pia Ostergaard (St George's)

Red List (low evidence)

Not in the lymphoedema clinic
Created: 1 Nov 2016, 3:51 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Amyloidosis, hereditary, transthyretin-related 105210

Created: 1 Nov 2016, 3:51 p.m.

Panel version: 0.9

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Emory Genetics Laboratory
UKGTN
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services

Phenotypes

Amyloidosis, hereditary, transthyretin-related 105210
Carpal tunnel syndrome, familial 115430
Dystransthyretinemic hyperthyroxinemia 145680

Tags

treatable

OMIM

176300

Clinvar variants

Variants in TTR

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

9 Jul 2019, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: TTR were set to

9 Jul 2019, Gel status: 1

Added Tag

Ellen McDonagh (Genomics England Curator)

Tag treatable tag was added to gene: TTR.

2 Nov 2016, Gel status: 1