Cardiomyopathy_Paediatric
Gene: GSN
GSN (gelsolin)
EnsemblGeneIds (GRCh38): ENSG00000148180
EnsemblGeneIds (GRCh37): ENSG00000148180
OMIM: 137350, Gene2Phenotype
GSN is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000148180
EnsemblGeneIds (GRCh37): ENSG00000148180
OMIM: 137350, Gene2Phenotype
GSN is in 7 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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 typically >50 years. Cardiomyopathy does not appear to be a presenting feature in childhood.
Sources: Expert listCreated: 13 Dec 2022, 4:17 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Amyloidosis, Finnish type, MIM# 105120
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- Amyloidosis, Finnish type, MIM# 105120
- OMIM
- 137350
- Clinvar variants
- Variants in GSN
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
13 Dec 2022, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gsn has been classified as Red List (Low Evidence).
13 Dec 2022, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: GSN was added gene: GSN was added to Cardiomyopathy_Paediatric. Sources: Expert list Mode of inheritance for gene: GSN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GSN were set to 26339870 Phenotypes for gene: GSN were set to Amyloidosis, Finnish type, MIM# 105120 Review for gene: GSN was set to RED