This Panel is marked as Internal
Paediatric or syndromic cardiomyopathy - previous panel
Gene: TTR
TTR (transthyretin)
EnsemblGeneIds (GRCh38): ENSG00000118271
EnsemblGeneIds (GRCh37): ENSG00000118271
OMIM: 176300, Gene2Phenotype
TTR is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000118271
EnsemblGeneIds (GRCh37): ENSG00000118271
OMIM: 176300, Gene2Phenotype
TTR is in 17 panels
1 review
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, 12:35 p.m. | Last Modified: 9 Jul 2019, 12:35 p.m.
Panel Version: 0.7
Phenotypes
Amyloidosis, hereditary, transthyretin-related 105210
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- South West GLH
- Phenotypes
-
- Amyloidosis, hereditary, transthyretin-related 105210
- Tags
- OMIM
- 176300
- Clinvar variants
- Variants in TTR
- Penetrance
- None
- Publications
- Panels with this gene
-
- Primary lymphoedema
- Dilated Cardiomyopathy and conduction defects
- Adult onset neurodegenerative disorder
- Periodic fever syndromes
- Hyperthyroidism
- Hereditary systemic amyloidosis
- Adult onset leukodystrophy
- Paroxysmal central nervous system disorders
- Hydrocephalus
- Paediatric or syndromic cardiomyopathy
- Familial dysautonomia
- Progressive cardiac conduction disease
- Intellectual disability
- Hereditary neuropathy or pain disorder
- Pain syndromes
- Hypertrophic cardiomyopathy
- Hereditary neuropathy
History Filter Activity
9 Jul 2019, Gel status: 1
Added Tag
Ellen McDonagh (Genomics England Curator)Tag treatable tag was added to gene: TTR.
9 Jul 2019, Gel status: 1
Removed Tag
Ellen McDonagh (Genomics England Curator)Tag treat was removed from gene: TTR.
9 Jul 2019, Gel status: 1
Added Tag
Ellen McDonagh (Genomics England Curator)Tag treat tag was added to gene: TTR.
9 Jul 2019, Gel status: 1
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene: TTR were changed from to Amyloidosis, hereditary, transthyretin-related 105210
9 Jul 2019, Gel status: 1
Set publications
Ellen McDonagh (Genomics England Curator)Publications for gene: TTR were set to
21 Feb 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: TTR was added gene: TTR was added to Paediatric or syndromic cardiomyopathy. Sources: South West GLH Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted