Primary lymphoedema
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, 12:50 p.m. | Last Modified: 9 Jul 2019, 12:50 p.m.
Panel Version: 1.81
Phenotypes
Amyloidosis, hereditary, transthyretin-related 105210
Publications
Comment when marking as ready: Phenotypes not relevant to this panelCreated: 1 Nov 2016, 4:02 p.m.
Comment on list classification: Expert review redCreated: 1 Nov 2016, 4:01 p.m.
Not in the lymphoedema clinicCreated: 1 Nov 2016, 3:51 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Amyloidosis, hereditary, transthyretin-related 105210
Publications for gene: TTR were set to
Tag treatable tag was added to gene: TTR.
A combined panel for lymphatic disorders - Meiges disease - Milroy disease - Lymphoedema distichiasis Promoted to V1 02/11/2016
This gene has been classified as Red List (Low Evidence).
Phenotypes for TTR were set to Amyloidosis, hereditary, transthyretin-related 105210; Carpal tunnel syndrome, familial 115430; Dystransthyretinemic hyperthyroxinemia 145680
This gene has been classified as Red List (Low Evidence).
TTR was added to Lymphatic Disorderspanel. Source: Emory Genetics Laboratory
TTR was added to Lymphatic Disorderspanel. Source: UKGTN
TTR was added to Lymphatic Disorderspanel. Source: Radboud University Medical Center, Nijmegen
TTR was added to Lymphatic Disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services
TTR was created by sleigh