Periodic fever syndromes

Gene: TTR

Green List (high evidence)

TTR (transthyretin)
EnsemblGeneIds (GRCh38): ENSG00000118271
EnsemblGeneIds (GRCh37): ENSG00000118271
OMIM: 176300, Gene2Phenotype
TTR is in 16 panels

3 reviews

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, 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

Alice Gardham (Genomics England)

Green List (high evidence)

well recognised as causing hereditary amyloidosis
Created: 30 Jan 2017, 4:36 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Amyloidosis, hereditary, transthyretin-related 105210

Publications

Rebecca Foulger (Genomics England curator)

Comment on mode of inheritance: Mode of inheritance confirmed by OMIM.
Created: 16 Jan 2017, 3:44 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Amyloidosis, Hereditary, Transthyretin-Related, 105210
  • Familial Transthyretin Amyloidosis
Tags
treatable
OMIM
176300
Clinvar variants
Variants in TTR
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

9 Jul 2019, Gel status: 3

Added Tag

Ellen McDonagh (Genomics England Curator)

Tag treatable tag was added to gene: TTR.

9 Jul 2019, Gel status: 3

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: TTR were set to 20301373; 11385707

22 Feb 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

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.

30 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

30 Jan 2017, Gel status: 3

Set publications

Alice Gardham (Genomics England)

Publications for TTR were set to 20301373; 11385707

16 Jan 2017, Gel status: 3

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for TTR was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

16 Jan 2017, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene TTR were set to Amyloidosis, Hereditary, Transthyretin-Related, 105210; Familial Transthyretin Amyloidosis

15 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene TTR was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

15 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

TTR was added to Periodic fever syndromes and amyloidosis panel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen

15 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene TTR was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

15 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

TTR was added to Periodic fever syndromes and amyloidosis panel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen

15 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TTR was added to Periodic fever syndromes and amyloidosis panel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen