Dilated Cardiomyopathy
Gene: CSRP3

CSRP3 (cysteine and glycine rich protein 3)
EnsemblGeneIds (GRCh38): ENSG00000129170
EnsemblGeneIds (GRCh37): ENSG00000129170
OMIM: 600824, Gene2Phenotype
CSRP3 is in 7 panels

1 review

Paul De Fazio (Victorian Clinical Genetics Services)

Red List (low evidence)

Moderate evidence for HCM by ClinGen. ?Cardiomyopathy, dilated, 1M in OMIM. Amber on PanelApp GEL. Association with HCM seems better established.

Only 2 somewhat convincing reports for association with DCM.

PMID 12507422: Heterozygous Trp4Arg found in 10 individuals with DCM but a later study also found this in controls (646 hets and 1 hom in gnomad)
PMID 14567970: Heterozygous Lys69Arg found in an individual with DCM but also in unaffected mother (5 hets in gnomad)
PMID 19412328: "Possibly pathogenic" heterozygoys Gly72Arg found in an individual with idiopathic DCM (7 hets in gnomAD).
Created: 3 Aug 2020, 1:47 a.m. | Last Modified: 3 Aug 2020, 1:47 a.m.

Panel Version: 0.43

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
?Cardiomyopathy, dilated, 1M MIM#607482

Publications

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

Created: 3 Aug 2020, 1:47 a.m.
Last Modified: 3 Aug 2020, 1:47 a.m.
Panel version: 0.43

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Cardiomyopathy, dilated, 1M MIM#607482

Tags

disputed

OMIM

600824

Clinvar variants

Variants in CSRP3

Penetrance

None

Publications

Panels with this gene