Cardiomyopathies - including childhood onsetGene: TTR
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 9 Dec 2019, 3:05 p.m.
Panel Version: 0.60
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, 12:45 p.m. | Last Modified: 9 Jul 2019, 12:45 p.m.
Panel Version: 1.31
Amyloidosis, hereditary, transthyretin-related 105210
Amyloidosis, hereditary, transthyretin-related OMIM#105210; Carpal tunnel syndrome, familial OMIM#115430; [Dystransthyretinemic hyperthyroxinemia] 145680 AD
Created: 25 Mar 2019, 4:30 p.m.
literature: Rapezzi et al (2013) Eur Heart J 34:520. 2. Iorio et al (2017) Eur J Hum Genet 25:1055. Cases where patient have cardiac problems only rather than presenting with neurological features. Adult onset disease
Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
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: 22 Jan 2019, 5:15 p.m.
Gene: ttr has been classified as Green List (High Evidence).
Publications for gene: TTR were set to
Source Expert Review Red was added to TTR. Source NHS GMS was added to TTR. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
gene: TTR was added gene: TTR was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Amber,South West GLH Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TTR were set to syndromic HCM