Adult onset leukodystrophy
Gene: TTR
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
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
Tag Q1_23_promote_green was removed from gene: TTR. Tag Q1_23_NHS_review was removed from gene: TTR.
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)
Gene: ttr has been classified as Amber List (Moderate Evidence).
Tag Q1_23_promote_green tag was added to gene: TTR. Tag Q1_23_NHS_review tag was added to gene: TTR.
Mode of inheritance for gene: TTR was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TTR were changed from to Amyloidosis, hereditary, transthyretin-related, OMIM:105210; familial amyloid neuropathy, MONDO:0007100
Publications for gene: TTR were set to
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