Hereditary neuropathy
Gene: TTREnsemblGeneIds (GRCh38): ENSG00000118271
EnsemblGeneIds (GRCh37): ENSG00000118271
OMIM: 176300, Gene2Phenotype
TTR is in 17 panels
6 reviews
Louise Daugherty (Genomics England Curator)
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 5 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Variants in this GENE are reported as part of current diagnostic practice
Rita Horvath (Institute of Genetic Medicine, Newcastle University)
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, 12:47 p.m. | Last Modified: 9 Jul 2019, 12:47 p.m.
Panel Version: 1.331
This gene is in the Charcot Marie Tooth Disease section in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual, for testing of Hereditary Sensory and Autonomic Neuropathy.Created: 10 Jun 2016, 1:21 p.m.
Comment on list classification: Promoted from amber to green due to agreement from 3 reviewers.Created: 4 May 2016, 9:28 a.m.
Phenotypes
Amyloidosis, hereditary, transthyretin-related 105210
Publications
Alexander Rossor (UCL Institute of Neurology)
FAPCreated: 9 Dec 2015, 8:49 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mary Reilly (Institute of Neurology)
FAPCreated: 8 Dec 2015, 3:05 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- London North GLH
- Expert Review Green
- UKGTN
- Expert list
- Emory Genetics Laboratory
- Phenotypes
-
- Amyloidosis, hereditary, transthyretin-related, 105210
- FAP
- Cardiomyopathy
- Tags
- OMIM
- 176300
- Clinvar variants
- Variants in TTR
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Hereditary neuropathy
- Dilated Cardiomyopathy and conduction defects
- Intellectual disability
- Adult onset leukodystrophy
- Periodic fever syndromes
- Hyperthyroidism
- Hereditary systemic amyloidosis
- Adult onset neurodegenerative disorder
- Familial dysautonomia
- Hydrocephalus
- Progressive cardiac conduction disease
- Pain syndromes
- Hypertrophic cardiomyopathy
- Paediatric or syndromic cardiomyopathy
- Paroxysmal central nervous system disorders
- Hereditary neuropathy or pain disorder
- Primary lymphoedema
History Filter Activity
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: TTR were changed from Cardiomyopathy to Amyloidosis, hereditary, transthyretin-related, 105210; FAP; Cardiomyopathy
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: TTR were set to
Added Tag
Ellen McDonagh (Genomics England Curator)Tag treatable tag was added to gene: TTR.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to TTR.
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source London North GLH was added to TTR. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for TTR was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)TTR was added to Charcot-Marie-Tooth diseasepanel. Sources: Emory Genetics Laboratory,Expert list,UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)TTR was added to Charcot-Marie-Tooth diseasepanel. Sources: Emory Genetics Laboratory,Expert list,UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)TTR was added to Charcot-Marie-Tooth diseasepanel. Sources: Emory Genetics Laboratory,Expert list,UKGTN