Periodic fever syndromes
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, 9:38 a.m. | Last Modified: 9 Jul 2019, 9:38 a.m.
Panel Version: 1.11
Phenotypes
Amyloidosis, hereditary, transthyretin-related 105210
Publications
well recognised as causing hereditary amyloidosisCreated: 30 Jan 2017, 4:36 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Amyloidosis, hereditary, transthyretin-related 105210
Publications
Comment on mode of inheritance: Mode of inheritance confirmed by OMIM.Created: 16 Jan 2017, 3:44 p.m.
Tag treatable tag was added to gene: TTR.
Publications for gene: TTR were set to 20301373; 11385707
22nd February 2017: Promoted to V1. Panel was reviewed by Tracy Briggs and Alice Gardham. Panel was revised according to expert review and additional curation.
This gene has been classified as Green List (High Evidence).
Publications for TTR were set to 20301373; 11385707
Mode of inheritance for TTR was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene TTR were set to Amyloidosis, Hereditary, Transthyretin-Related, 105210; Familial Transthyretin Amyloidosis
Model of inheritance for gene TTR was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
TTR was added to Periodic fever syndromes and amyloidosis panel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Model of inheritance for gene TTR was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
TTR was added to Periodic fever syndromes and amyloidosis panel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
TTR was added to Periodic fever syndromes and amyloidosis panel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen