Adult onset neurodegenerative disorder
Gene: CST3
The rating of this gene has been set to Amber and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' 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
There are >3 unrelated cases with relevant phenotype (cerebral amyloid angiopathy) and age of onset is third or fourth decade of life. However, all these cases were identified with the same heterozygous variant in the CST3 gene (p.L68Q) and was from the same Icelandic population. There should be functional studies on this specific variant, de novo cases with this variant from other populations or existence of other variants causing the same phenotype for it to be rated green. Hence, this gene is rated AMBER.Created: 10 Jan 2023, 6:37 p.m. | Last Modified: 10 Jan 2023, 6:43 p.m.
Panel Version: 3.47
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cerebral amyloid angiopathy, OMIM:105150
Review submitted on behalf of David Lynch, James Polke, Henry Houlden, Lucy Jenkins. Mode of inheritance: AD. Phenotype: Cerebral amyloid angiopathy. Evidence: MIM: 105150. Icelandic founder mutationCreated: 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
Source NHS GMS was added to CST3.
Tag Q1_23_promote_green was removed from gene: CST3.
Tag Q1_23_promote_green tag was added to gene: CST3.
Mode of inheritance for gene: CST3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: cst3 has been classified as Amber List (Moderate Evidence).
Gene: cst3 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: CST3 were changed from to Cerebral amyloid angiopathy, OMIM:105150
gene: CST3 was added gene: CST3 was added to Neurodegenerative disorders - adult onset. Sources: Expert list Mode of inheritance for gene: CST3 was set to