Paediatric or syndromic cardiomyopathy - previous panel
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, 12:35 p.m. | Last Modified: 9 Jul 2019, 12:35 p.m.
Panel Version: 0.7
Phenotypes
Amyloidosis, hereditary, transthyretin-related 105210
Publications
Tag treatable tag was added to gene: TTR.
Tag treat was removed from gene: TTR.
Tag treat tag was added to gene: TTR.
Phenotypes for gene: TTR were changed from to Amyloidosis, hereditary, transthyretin-related 105210
Publications for gene: TTR were set to
gene: TTR was added gene: TTR was added to Paediatric or syndromic cardiomyopathy. Sources: South West GLH Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted