Molecular autopsy

Gene: TTR

I don't know

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, 12:46 p.m. | Last Modified: 9 Jul 2019, 12:46 p.m.

Panel Version: 0.96

This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.

Created: 20 Feb 2019, 2:17 p.m.

Phenotypes
Amyloidosis, hereditary, transthyretin-related 105210

Publications

• 30878017
• 31131842
• 31118583
• 31111153
• 30120737

Comment on list classification: Promoted from Red to Amber due to new feedback on 17-01-2019 in the source panel Hypertrophic cardiomyopathy - teen and adult which resulted in the gene being promoted to Amber on that panel.

Created: 24 Jan 2019, 10:33 p.m.