Adult onset neurodegenerative disorder
Gene: TTREnsemblGeneIds (GRCh38): ENSG00000118271
EnsemblGeneIds (GRCh37): ENSG00000118271
OMIM: 176300, Gene2Phenotype
TTR is in 17 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, not imprinted' following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 12:22 p.m. | Last Modified: 1 Feb 2023, 12:22 p.m.
Panel Version: 3.49
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on classification: Sufficient evidence to promote this gene to Green at the next GMS panel update. >3 unrelated cases including relevant phenotypes and with adult-onset reported in patients.
This gene has been associated with relevant phenotypes in OMIM, but not in G2P.Created: 4 Jan 2023, 10:46 p.m. | Last Modified: 4 Jan 2023, 10:46 p.m.
Panel Version: 3.32
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Amyloidosis, hereditary, transthyretin-related, OMIM:105210; Carpal tunnel syndrome, familial, OMIM:115430
Eleanor Williams (Genomics England Curator)
Review submitted on behalf of David Lynch, James Polke, Henry Houlden, Lucy Jenkins. Mode of inheritance: AD. Phenotype: Cerebral amyloid angiopathy. Evidence: Numerous examples of cerbral angiopathy in patients with hereditary TTR amyloidosis including post liver transplantation: PMID:35040071, 34663645, 27466465, 31257920, 29779881, 28991667, 34390072, 25802113Created: 22 Dec 2022, 12:10 p.m. | Last Modified: 22 Dec 2022, 12:10 p.m.
Panel Version: 3.4
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cerebral amyloid angiopathy
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Expert list
- Phenotypes
-
- Amyloidosis, hereditary, transthyretin-related, OMIM:105210
- Carpal tunnel syndrome, familial, OMIM:115430
- OMIM
- 176300
- Clinvar variants
- Variants in TTR
- Penetrance
- None
- 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
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q1_23_promote_green was removed from gene: TTR.
Added New Source, Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source NHS GMS was added to TTR. Source Expert Review Green was added to TTR. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q1_23_promote_green tag was added to gene: TTR.
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: TTR were set to
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: TTR were changed from to Amyloidosis, hereditary, transthyretin-related, OMIM:105210; Carpal tunnel syndrome, familial, OMIM:115430
Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)Mode of inheritance for gene: TTR was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: ttr has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: TTR was added gene: TTR was added to Neurodegenerative disorders - adult onset. Sources: Expert list Mode of inheritance for gene: TTR was set to