Hydrocephalus

Gene: TTR

Red List (low evidence)

TTR (transthyretin)
EnsemblGeneIds (GRCh38): ENSG00000118271
EnsemblGeneIds (GRCh37): ENSG00000118271
OMIM: 176300, Gene2Phenotype
TTR is in 13 panels

3 reviews

Louise Daugherty (Genomics England Curator)

I don't know

As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Created: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34

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, 12:30 p.m. | Last Modified: 9 Jul 2019, 12:30 p.m.
Panel Version: 1.30

Phenotypes
Amyloidosis, hereditary, transthyretin-related 105210

Publications

Helen Brittain (Genomics England Curator)

Red List (low evidence)

Comment when marking as ready: Not an appropriate phenotype for a hydrocephalus panel.
Created: 29 Mar 2017, 1:27 p.m.
Comment on list classification: Hydrocephalus not a common feature. Adult onset progressive multi-system disorder. Not considered appropriate for hydrocephalus panel.
Created: 29 Mar 2017, 1:26 p.m.
This is an autosomal dominant progressive multi-system disorder owing to abnormal protein deposition. It presents typically in the 3rd - 5th decade with polyneuropathy, autonomic neuropathy (GI / GU), cardiomyopathy and CNS symptoms. Hydrocephalus is listed as a linked feature, however it is not the predominant feature and many patients would not develop it. I do not see a hydrocephalus panel as the appropriate way of detecting this condition and caution would need to be applied in offering this gene to young participants, as this is most likely to represent a predictive test. Therefore, I would not include TTR on a primarily hydrocephalus panel.
Created: 29 Mar 2017, 12:58 p.m.

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

Phenotypes
Amyloidosis, hereditary, transthyretin-related 105210

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Red
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Amyloidosis, hereditary, transthyretin-related 105210
Tags
treatable adult-onset
OMIM
176300
Clinvar variants
Variants in TTR
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Jul 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to TTR.

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.

31 May 2017, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31.05.2017 - panel revised after internal curation and clinical review.

4 May 2017, Gel status: 1

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for TTR were set to Amyloidosis, hereditary, transthyretin-related 105210

29 Mar 2017, Gel status: 1

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

29 Mar 2017, Gel status: 1

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for TTR were set to Amyloidosis, hereditary, transthyretin-related 105210; Familial Transthyretin Amyloidosis; Amyloidosis, Hereditary, Transthyretin-Related

29 Mar 2017, Gel status: 1

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

9 Dec 2016, Gel status: 3

Added New Source

Olivia Niblock (Genomics England Curator)

TTR was added to Hydrocephaluspanel. Source: UKGTN

9 Dec 2016, Gel status: 2

Added New Source

Olivia Niblock (Genomics England Curator)

TTR was added to Hydrocephaluspanel. Source: Illumina TruGenome Clinical Sequencing Services

9 Dec 2016, Gel status: 0

Created

Olivia Niblock (Genomics England Curator)

TTR was created by oniblock

9 Dec 2016, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

TTR was added to Hydrocephaluspanel. Sources: Radboud University Medical Center, Nijmegen