Adult onset leukodystrophy
Gene: TTREnsemblGeneIds (GRCh38): ENSG00000118271
EnsemblGeneIds (GRCh37): ENSG00000118271
OMIM: 176300, Gene2Phenotype
TTR is in 17 panels
2 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 5:56 p.m. | Last Modified: 30 Jan 2023, 5:56 p.m.
Panel Version: 2.46
Associated with Amyloidosis, hereditary, transthyretin-related (OMIM:105210), but not associated with a phenotype in Gen2Phen. Numerous TTR variants have been reported in cases from different populations.Created: 5 Jan 2023, 6:02 p.m. | Last Modified: 5 Jan 2023, 6:02 p.m.
Panel Version: 2.44
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 5 Jan 2023, 5:59 p.m. | Last Modified: 5 Jan 2023, 5:59 p.m.
Panel Version: 2.44
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, 25802113.Created: 22 Dec 2022, 2:01 p.m. | Last Modified: 22 Dec 2022, 2:01 p.m.
Panel Version: 2.3
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cerebral amyloid angiopathy
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- Expert list
- Phenotypes
-
- Amyloidosis, hereditary, transthyretin-related, OMIM:105210
- familial amyloid neuropathy, MONDO:0007100
- 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, Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q1_23_promote_green was removed from gene: TTR. Tag Q1_23_NHS_review was removed from gene: TTR.
Added New Source, Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source Expert Review Green was added to TTR. Source NHS GMS was added to TTR. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: ttr has been classified as Amber List (Moderate Evidence).
Added Tag, Added Tag
Sarah Leigh (Genomics England Curator)Tag Q1_23_promote_green tag was added to gene: TTR. Tag Q1_23_NHS_review tag was added to gene: TTR.
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: TTR was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: TTR were changed from to Amyloidosis, hereditary, transthyretin-related, OMIM:105210; familial amyloid neuropathy, MONDO:0007100
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: TTR were set to
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: TTR was added gene: TTR was added to White matter disorders - adult onset. Sources: Expert list Mode of inheritance for gene: TTR was set to