Hereditary neuropathy
Gene: TTR
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 5 p.m.
Variants in this GENE are reported as part of current diagnostic practice
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, 12:47 p.m. | Last Modified: 9 Jul 2019, 12:47 p.m.
Panel Version: 1.331
This gene is in the Charcot Marie Tooth Disease section in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual, for testing of Hereditary Sensory and Autonomic Neuropathy.Created: 10 Jun 2016, 1:21 p.m.
Comment on list classification: Promoted from amber to green due to agreement from 3 reviewers.Created: 4 May 2016, 9:28 a.m.
Phenotypes
Amyloidosis, hereditary, transthyretin-related 105210
Publications
FAPCreated: 9 Dec 2015, 8:49 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
FAPCreated: 8 Dec 2015, 3:05 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TTR were changed from Cardiomyopathy to Amyloidosis, hereditary, transthyretin-related, 105210; FAP; Cardiomyopathy
Publications for gene: TTR were set to
Tag treatable tag was added to gene: TTR.
Source NHS GMS was added to TTR.
Source London North GLH was added to TTR. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Mode of inheritance for TTR was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
TTR was added to Charcot-Marie-Tooth diseasepanel. Sources: Emory Genetics Laboratory,Expert list,UKGTN
TTR was added to Charcot-Marie-Tooth diseasepanel. Sources: Emory Genetics Laboratory,Expert list,UKGTN
TTR was added to Charcot-Marie-Tooth diseasepanel. Sources: Emory Genetics Laboratory,Expert list,UKGTN