Adult onset leukodystrophy
Gene: CST3
The rating of this gene has been updated to Amber 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 Cerebral amyloid angiopathy, OMIM:105150, but not associated with a phenotype in Gen2Phen. A single founder variant (NM_000099.4(CST3):c.281T>A (p.Leu94Gln)) has been associated OMIM:105150 in the Icelandic population (PMIDs: 3495457; 1352269; 8108423).Created: 5 Jan 2023, 11:04 a.m. | Last Modified: 5 Jan 2023, 11:04 a.m.
Panel Version: 2.13
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 mutation.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
Source NHS GMS was added to CST3.
Publications for gene: CST3 were set to 2900981; 3495457; 1352269; 3673496; 7482672
Tag founder-effect tag was added to gene: CST3.
Gene: cst3 has been classified as Amber List (Moderate Evidence).
Publications for gene: CST3 were set to
Mode of inheritance for gene: CST3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CST3 were changed from Cerebral amyloid angiopathy, OMIM:105150; ACys amyloidosis, MONDO:0007098 to Cerebral amyloid angiopathy, OMIM:105150; ACys amyloidosis, MONDO:0007098
Phenotypes for gene: CST3 were changed from Cerebral amyloid angiopathy, OMIM:105150 to Cerebral amyloid angiopathy, OMIM:105150; ACys amyloidosis, MONDO:0007098
Phenotypes for gene: CST3 were changed from to Cerebral amyloid angiopathy, OMIM:105150
gene: CST3 was added gene: CST3 was added to White matter disorders - adult onset. Sources: Expert list Mode of inheritance for gene: CST3 was set to