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Paediatric or syndromic cardiomyopathy

Gene: TTR

Green List (high evidence)

TTR (transthyretin)
EnsemblGeneIds (GRCh38): ENSG00000118271
EnsemblGeneIds (GRCh37): ENSG00000118271
OMIM: 176300, Gene2Phenotype
TTR is in 19 panels

4 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 9 Dec 2019, 3:05 p.m.
Panel Version: 0.60

Ellen McDonagh (Genomics England Curator)

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, 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 (
Created: 9 Jul 2019, 12:45 p.m. | Last Modified: 9 Jul 2019, 12:45 p.m.
Panel Version: 1.31

Amyloidosis, hereditary, transthyretin-related 105210


Rebecca Whittington (South West GLH)

Red List (low evidence)

Amyloidosis, hereditary, transthyretin-related OMIM#105210; Carpal tunnel syndrome, familial OMIM#115430; [Dystransthyretinemic hyperthyroxinemia] 145680 AD
Created: 25 Mar 2019, 4:30 p.m.
literature: Rapezzi et al (2013) Eur Heart J 34:520. 2. Iorio et al (2017) Eur J Hum Genet 25:1055. Cases where patient have cardiac problems only rather than presenting with neurological features. Adult onset disease
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Variants in this GENE are reported as part of current diagnostic practice

Eleanor Williams (Genomics England Curator)

Comment on list classification: Promoted from Red to Amber due to new feedback on 17-01-2019 in the source panel Hypertrophic cardiomyopathy - teen and adult which resulted in the gene being promoted to Amber on that panel.
Created: 22 Jan 2019, 5:15 p.m.

History Filter Activity

9 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: ttr has been classified as Green List (High Evidence).

9 Dec 2019, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: TTR were set to

2 Dec 2019, Gel status: 1

Added New Source, Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Red was added to TTR. Source NHS GMS was added to TTR. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

4 Sep 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: TTR was added gene: TTR was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Amber,South West GLH Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TTR were set to syndromic HCM