Periodic fever syndromes
Gene: GSN

GSN (gelsolin)
EnsemblGeneIds (GRCh38): ENSG00000148180
EnsemblGeneIds (GRCh37): ENSG00000148180
OMIM: 137350, Gene2Phenotype
GSN is in 9 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Comment on list classification: All reported mutations are in exon 4
Created: 2 Feb 2017, 1:31 p.m.

Comment on mode of inheritance: AD but more severe phenotype if biallelic inheritance
Created: 1 Feb 2017, 2:14 p.m.

Founder mutation most commonly seen.
Created: 1 Feb 2017, 2:13 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Amyloidosis, Finnish type 105120

Publications

2176164

Created: 1 Feb 2017, 2:13 p.m.

Panel version: 0.44

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services

Phenotypes

Amyloidosis, Finnish type, OMIM:105120

OMIM

137350

Clinvar variants

Variants in GSN

Penetrance

Complete

Publications

2176164

Panels with this gene

History Filter Activity

6 Apr 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

22 Feb 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

22nd February 2017: Promoted to V1. Panel was reviewed by Tracy Briggs and Alice Gardham. Panel was revised according to expert review and additional curation.

2 Feb 2017, Gel status: 4