Previous cardiomyopathies - including childhood onset
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, 12:45 p.m. | Last Modified: 9 Jul 2019, 12:45 p.m.
Panel Version: 1.31
Phenotypes
Amyloidosis, hereditary, transthyretin-related 105210
Publications
Amyloidosis, hereditary, transthyretin-related OMIM#105210; Carpal tunnel syndrome, familial OMIM#115430; [Dystransthyretinemic hyperthyroxinemia] 145680 ADCreated: 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 diseaseCreated: 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.
Tag treatable tag was added to gene: TTR.
Source South West GLH was added to TTR. Mode of inheritance for gene TTR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Eleanor Williams: Comment on list classification
Gene: ttr has been classified as Amber List (Moderate Evidence).
Added phenotypes syndromic HCM for gene: TTR
gene: TTR was added gene: TTR was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Red Mode of inheritance for gene: TTR was set to Unknown