Paroxysmal central nervous system disorders

Gene: TTR

Red List (low evidence)

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

4 reviews

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Red List (low evidence)

Rebecca Foulger (Genomics England curator)

I don't know

Comment on list classification: Demoted TTR from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Created: 9 Sep 2019, 3:32 p.m. | Last Modified: 9 Sep 2019, 3:32 p.m.
Panel Version: 0.79
Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Created: 2 Sep 2019, 2:39 p.m. | Last Modified: 2 Sep 2019, 2:39 p.m.
Panel Version: 0.26
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (February 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group.
Created: 2 Sep 2019, 1:39 p.m. | Last Modified: 2 Sep 2019, 1:39 p.m.
Panel Version: 0.23

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Not a CNS disorder
Created: 2 Sep 2019, 1:30 p.m. | Last Modified: 2 Sep 2019, 1:30 p.m.
Panel Version: 0.22

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Carpal tunnel syndrome, familial, 115430; Amyloidosis, hereditary, transthyretin-related, 105210

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, 12:42 p.m. | Last Modified: 9 Jul 2019, 12:42 p.m.
Panel Version: 0.19

Phenotypes
Amyloidosis, hereditary, transthyretin-related 105210

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
Phenotypes
  • Carpal tunnel syndrome, familial, 115430
  • Hereditary amyloidosis
  • Amyloidosis, hereditary, transthyretin-related, 105210
  • Familial amyloid polyneuropathy
Tags
treatable
OMIM
176300
Clinvar variants
Variants in TTR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Sep 2019, Gel status: 1

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: ttr has been classified as Red List (Low Evidence).

9 Sep 2019, Gel status: 1

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: ttr has been classified as Red List (Low Evidence).

2 Sep 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to TTR.

2 Sep 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to TTR.

2 Sep 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to TTR.

9 Jul 2019, Gel status: 3

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: TTR were set to 12771253; The Metabolic and Molecular Bases of Inherited Disease. Vol. IV. 8th ed.Benson, M. D. Amyloidosis. In: Scriver, C. R et al.: New York: McGraw-Hill . 2001.; 25069833; 19365058; 28678039; 26800456; 8309582; 14640030; 16433699; 3011930

9 Jul 2019, Gel status: 3

Added Tag

Ellen McDonagh (Genomics England Curator)

Tag treatable tag was added to gene: TTR.

3 Jan 2019, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Carpal tunnel syndrome, familial, 115430; Hereditary amyloidosis; Amyloidosis, hereditary, transthyretin-related, 105210; Familial amyloid polyneuropathy for gene: TTR

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: TTR was added gene: TTR was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TTR were set to 12771253; The Metabolic and Molecular Bases of Inherited Disease. Vol. IV. 8th ed.Benson, M. D. Amyloidosis. In: Scriver, C. R et al.: New York: McGraw-Hill . 2001.; 25069833; 19365058; 28678039; 26800456; 8309582; 14640030; 16433699; 3011930 Phenotypes for gene: TTR were set to Carpal tunnel syndrome, familial, 115430; Hereditary amyloidosis; Amyloidosis, hereditary, transthyretin-related, 105210; Familial amyloid polyneuropathy