Adult onset neurodegenerative disorder
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: 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 phenotype (amyloidosis) and onset in third decade of life.
This gene has been associated with relevant phenotypes in both OMIM and G2P.Created: 4 Jan 2023, 10:25 p.m. | Last Modified: 4 Jan 2023, 10:25 p.m.
Panel Version: 3.25
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Amyloidosis, Finnish type, OMIM:105120
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, 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
Hereditary gelsolin amyloidosis
Publications
Tag Q1_23_promote_green was removed from gene: GSN.
Source NHS GMS was added to GSN. Source Expert Review Green was added to GSN. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Publications for gene: GSN were set to 25097823
Publications for gene: GSN were set to
Phenotypes for gene: GSN were changed from Amyloidosis, Finnish type, OMIM:105120 to Amyloidosis, Finnish type, OMIM:105120; Finnish type amyloidosis, MONDO:0007097
Tag Q1_23_promote_green tag was added to gene: GSN.
Phenotypes for gene: GSN were changed from to Amyloidosis, Finnish type, OMIM:105120
Mode of inheritance for gene: GSN was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: gsn has been classified as Amber List (Moderate Evidence).
gene: GSN was added gene: GSN was added to Neurodegenerative disorders - adult onset. Sources: Expert list Mode of inheritance for gene: GSN was set to