Amyloidosis

Gene: GSN

Green List (high evidence)

GSN (gelsolin)
EnsemblGeneIds (GRCh38): ENSG00000148180
EnsemblGeneIds (GRCh37): ENSG00000148180
OMIM: 137350, Gene2Phenotype
GSN is in 7 panels

1 review

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

OMIM reports that Maury, 1993 (PMID: 8395367, abstract only accessed) reports that 2 2 sibs, the offspring of 2 affected parents, who were by DNA test homozygous for the mutation and showed unusually early onset and severity of the disease , thus the BIALLELIC mutations cause a more SEVERE disease form mode of inheritiance seems appropriate.
Created: 8 Oct 2019, 12:51 p.m. | Last Modified: 8 Oct 2019, 12:51 p.m.
Panel Version: 0.18
Associated with Amyloidosis, Finnish type (#105120) in OMIM

PMID: 25342098 - Rowczenio et al - report the clinical features in 10 patients with hereditary gelsolin (AGel) amyloidosis associated with the p.D214N mutation. Two patients, from the same kindred presented with proteinuria; eight subjects had a characteristic AGel amyloidosis phenotype including cranial neuropathy and/or corneal lattice dystrophy.

PMID: 24601799 - Efebera et al 2014 - report a novel gelsolin variant in a 62-year-old man with nephrotic range proteinuria. DNA sequencing revealed the novel gelsolin mutation (c.633C > A) encoding p.N211K protein variant. 4 of 13 asymptomatic family members were found to be heterozygous for the p.N211K mutation, three of whom had proteinuria of varying degree including one who proceeded to renal biopsy and was confirmed to have renal amyloidosis.

PMID: 22938848 - Sethi et al 2013 - report a 75-year-old woman who presented with progressive kidney failure. Kidney biopsy showed amyloidosis of undetermined type. Sequencing of the gelsolin gene revealed a previously undescribed sequence variant, a guanine to adenine substitution at nucleotide 580 of the coding sequence, corresponding to a predicted glycine to arginine mutation at amino acid 194.
Created: 13 Aug 2019, 4:18 p.m. | Last Modified: 13 Aug 2019, 4:18 p.m.
Panel Version: 0.7
This gene was part of an initial gene list collated by Emma Ashton (NE Thames Regional Genetics laboratory, GOSH NHS Foundation Trust) January 2019 on behalf of the GMS Renal Specialist Test Group.Gene Symbol submitted: GSN;Suggested initial gene rating: Green;Evidence for inclusion: none provided;Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided. Other Comments: Already on the Periodic Fever Syndrome App
Created: 2 Feb 2019, 3:49 p.m.

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
105120

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Amyloidosis, Finnish type 105120
OMIM
137350
Clinvar variants
Variants in GSN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Sep 2019, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: GSN were changed from 105120 to Amyloidosis, Finnish type 105120

2 Feb 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: GSN was added gene: GSN was added to Amyloidosis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GSN was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: GSN were set to 24601799; 25342098; 22938848 Phenotypes for gene: GSN were set to 105120