Adult onset leukodystrophy
Gene: GSN
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: 30 Jan 2023, 5:56 p.m. | Last Modified: 30 Jan 2023, 5:56 p.m.
Panel Version: 2.46
Associated with Amyloidosis, Finnish type, in OMIM and as definitive gene for this phenotype in Gen2Phen. At least 4 variants have been reported (PMID: 25097823; 33973672; 33499149).Created: 5 Jan 2023, 12:04 p.m. | Last Modified: 5 Jan 2023, 12:04 p.m.
Panel Version: 2.23
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 5 Jan 2023, noon | Last Modified: 5 Jan 2023, noon
Panel Version: 2.23
Review submitted on behalf of David Lynch, James Polke, Henry Houlden, Lucy Jenkins. Mode of inheritance: AD. Phenotype: Hereditary gelsolin amyloidosis. Evidence: PMID: 25097823. Two recurrent variants, originally identified in Finland but subsequently in multiple populations. CSN involvement thought to be related to CAA..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
Hereditary gelsolin amyloidosis
Publications
Tag Q1_23_promote_green was removed from gene: GSN. Tag Q1_23_NHS_review was removed from gene: GSN.
Source Expert Review Green was added to GSN. Source NHS GMS was added to GSN. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q1_23_promote_green tag was added to gene: GSN. Tag Q1_23_NHS_review tag was added to gene: GSN.
Gene: gsn has been classified as Amber List (Moderate Evidence).
Publications for gene: GSN were set to 25097823; 7550233
Mode of inheritance for gene: GSN was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GSN were set to 25097823
Publications for gene: GSN were set to
Phenotypes for gene: GSN were changed from to Amyloidosis, Finnish type, OMIM:105120; Finnish type amyloidosis, MONDO:0007097
gene: GSN was added gene: GSN was added to White matter disorders - adult onset. Sources: Expert list Mode of inheritance for gene: GSN was set to