Adult onset neurodegenerative disorder
Gene: TTR
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
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
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
Tag Q1_23_promote_green was removed from gene: TTR.
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)
Tag Q1_23_promote_green tag was added to gene: TTR.
Publications for gene: TTR were set to
Phenotypes for gene: TTR were changed from to Amyloidosis, hereditary, transthyretin-related, OMIM:105210; Carpal tunnel syndrome, familial, OMIM:115430
Mode of inheritance for gene: TTR was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: ttr has been classified as Amber List (Moderate Evidence).
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