Primary lymphoedema

Gene: TTR

Red List (low evidence)

TTR (transthyretin)
EnsemblGeneIds (GRCh38): ENSG00000118271
EnsemblGeneIds (GRCh37): ENSG00000118271
OMIM: 176300, Gene2Phenotype
TTR is in 14 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, 12:50 p.m. | Last Modified: 9 Jul 2019, 12:50 p.m.
Panel Version: 1.81

Phenotypes
Amyloidosis, hereditary, transthyretin-related 105210

Publications

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Phenotypes not relevant to this panel
Created: 1 Nov 2016, 4:02 p.m.
Comment on list classification: Expert review red
Created: 1 Nov 2016, 4:01 p.m.

Pia Ostergaard (St George's)

Red List (low evidence)

Not in the lymphoedema clinic
Created: 1 Nov 2016, 3:51 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Amyloidosis, hereditary, transthyretin-related 105210

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Amyloidosis, hereditary, transthyretin-related 105210
  • Carpal tunnel syndrome, familial 115430
  • Dystransthyretinemic hyperthyroxinemia 145680
Tags
treatable
OMIM
176300
Clinvar variants
Variants in TTR
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

9 Jul 2019, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: TTR were set to

9 Jul 2019, Gel status: 1

Added Tag

Ellen McDonagh (Genomics England Curator)

Tag treatable tag was added to gene: TTR.

2 Nov 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

A combined panel for lymphatic disorders - Meiges disease - Milroy disease - Lymphoedema distichiasis Promoted to V1 02/11/2016

1 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

1 Nov 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for TTR were set to Amyloidosis, hereditary, transthyretin-related 105210; Carpal tunnel syndrome, familial 115430; Dystransthyretinemic hyperthyroxinemia 145680

1 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

30 Sep 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

TTR was added to Lymphatic Disorderspanel. Source: Emory Genetics Laboratory

30 Sep 2016, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

TTR was added to Lymphatic Disorderspanel. Source: UKGTN

30 Sep 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

TTR was added to Lymphatic Disorderspanel. Source: Radboud University Medical Center, Nijmegen

30 Sep 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

TTR was added to Lymphatic Disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services

30 Sep 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

TTR was created by sleigh