Paediatric or syndromic cardiomyopathy
Gene: GSNComment 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
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: LiteratureCreated: 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
Gene: gsn has been classified as Amber List (Moderate Evidence).
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
Publications for gene: GSN were set to PMID: 33499149; PMID:26339870
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