Familial dysautonomia
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, 9:42 a.m. | Last Modified: 9 Jul 2019, 9:42 a.m.
Panel Version: 1.6
Phenotypes
Amyloidosis, hereditary, transthyretin-related 105210
Publications
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Comment on list classification: To stay as amber until all recruited children in pilot study have had their testing and then can promote to greenCreated: 28 Nov 2016, 11:08 a.m.
Late onset. Autonomic findings include: orthostatic hypotension, constipation alternating with diarrhea, attacks of nausea and vomiting, delayed gastric emptying, sexual impotence, anhidrosis, and urinary retention or incontinenceCreated: 21 Nov 2016, 10:38 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Amyloidosis, hereditary, transthyretin-related 105210
Publications
Tag treatable tag was added to gene: TTR.
Publications for gene: TTR were set to 12978172
Promoted to version 1 on 1st December 2016 by Alice Gardham. Currently for pilot study only patients. Will need review following pilot study results.
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
TTR was created by agardham
TTR was added to Familial dysautonomiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN