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Cardiomyopathies - including childhood onset

Gene: GSN

Amber List (moderate evidence)

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

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Dmitrijs Rots (RadboudUMC). This gene is associated with a phenotype in OMIM and Gene2Phenotype.

PMID: 26339870 found that 12/227 patients had cardiomyopathy and previous case reports and publications show that cardiomyopathy is only present in some cases and the age of diagnosis (or when pacemakers were implants into patients) is >50 years. Cardiomyopathy does not appear to be a presenting feature.

Therefore, this gene has been given an Amber rating.
Created: 18 Oct 2021, 8:03 a.m. | Last Modified: 18 Oct 2021, 8:03 a.m.
Panel Version: 1.57

Dmitrijs Rots (RadboudUMC)

Green List (high evidence)

Causes Amyloidosis, Finnish type with multisystem involvement. Cardiomyopathy reported in >6% of patients and arrhytmia (without specifying types) in >30% from >200-individual large cohort from Finland. PMID:26339870.
Sources: Literature
Created: 26 Jul 2021, 10:23 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Amyloidosis; cranial neuropathy; peripheral neuropathy; cutis laxa; cardiomyopathy; arrhytmia

Publications

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Amyloidosis, Finnish type, OMIM:105120
  • cranial neuropathy
  • peripheral neuropathy
  • cutis laxa
  • cardiomyopathy, MONDO:0004994
  • arrhythmia
OMIM
137350
Clinvar variants
Variants in GSN
Penetrance
Incomplete
Publications
Panels with this gene

History Filter Activity

18 Oct 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: gsn has been classified as Amber List (Moderate Evidence).

27 Jul 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: GSN were changed from Amyloidosis; cranial neuropathy; peripheral neuropathy; cutis laxa; cardiomyopathy; arrhytmia to Amyloidosis, Finnish type, OMIM:105120; cranial neuropathy; peripheral neuropathy; cutis laxa; cardiomyopathy, MONDO:0004994; arrhythmia

27 Jul 2021, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: GSN were set to PMID: 33499149; PMID:26339870

26 Jul 2021, Gel status: 0

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

Dmitrijs Rots (RadboudUMC)

gene: GSN was added gene: GSN was added to Cardiomyopathies - including childhood onset. Sources: Literature Mode of inheritance for gene: GSN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GSN were set to PMID: 33499149; PMID:26339870 Phenotypes for gene: GSN were set to Amyloidosis; cranial neuropathy; peripheral neuropathy; cutis laxa; cardiomyopathy; arrhytmia Penetrance for gene: GSN were set to Incomplete Review for gene: GSN was set to GREEN gene: GSN was marked as current diagnostic