Paroxysmal central nervous system disorders
Gene: TTR
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.
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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
Not a CNS disorderCreated: 2 Sep 2019, 1:30 p.m. | Last Modified: 2 Sep 2019, 1:30 p.m.
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Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Carpal tunnel syndrome, familial, 115430; Amyloidosis, hereditary, transthyretin-related, 105210
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
Gene: ttr has been classified as Red List (Low Evidence).
Gene: ttr has been classified as Red List (Low Evidence).
Source NHS GMS was added to TTR.
Source London North GLH was added to TTR.
Source Wessex and West Midlands GLH was added to TTR.
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
Tag treatable tag was added to gene: TTR.
Added phenotypes Carpal tunnel syndrome, familial, 115430; Hereditary amyloidosis; Amyloidosis, hereditary, transthyretin-related, 105210; Familial amyloid polyneuropathy for gene: TTR
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