Adult onset neurodegenerative disorder
Gene: GSNEnsemblGeneIds (GRCh38): ENSG00000148180
EnsemblGeneIds (GRCh37): ENSG00000148180
OMIM: 137350, Gene2Phenotype
GSN is in 9 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
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
Achchuthan Shanmugasundram (Genomics England Curator)
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
Eleanor Williams (Genomics England Curator)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Expert list
- Phenotypes
-
- Amyloidosis, Finnish type, OMIM:105120
- Finnish type amyloidosis, MONDO:0007097
- OMIM
- 137350
- Clinvar variants
- Variants in GSN
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q1_23_promote_green was removed from gene: GSN.
Added New Source, Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)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)
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: GSN were set to 25097823
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: GSN were set to
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: GSN were changed from Amyloidosis, Finnish type, OMIM:105120 to Amyloidosis, Finnish type, OMIM:105120; Finnish type amyloidosis, MONDO:0007097
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q1_23_promote_green tag was added to gene: GSN.
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: GSN were changed from to Amyloidosis, Finnish type, OMIM:105120
Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)Mode of inheritance for gene: GSN was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: gsn has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)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