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  3. CSRP3
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Sudden cardiac death - previous panel

Gene: CSRP3

Green List (high evidence)
CSRP3 (cysteine and glycine rich protein 3)
EnsemblGeneIds (GRCh38): ENSG00000129170
EnsemblGeneIds (GRCh37): ENSG00000129170
OMIM: 600824, Gene2Phenotype
CSRP3 is in 6 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.
Created: 20 Feb 2019, 2:17 p.m.
Created: 20 Feb 2019, 2:17 p.m.

Panel version: Imported from Molecular autopsy panel version 0.86

James Eden (Manchester)

Green List (high evidence)

Gene currently tested on Manchester cardiac gene panel. 33 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: moderate association with HCM 12 (accessed 29/01/2019).
Created: 14 Feb 2019, 1:38 p.m.

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

Phenotypes
?Cardiomyopathy, dilated, 1M (607482); Cardiomyopathy, hypertrophic, 12 (612124)

Publications

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

Created: 14 Feb 2019, 1:38 p.m.

Panel version: Imported from Molecular autopsy panel version 0.82

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • London South GLH
  • North West GLH
  • Expert Review Green
  • London South GLH
  • North West GLH
  • Expert Review Green
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 12
  • ?Cardiomyopathy, dilated, 1M (607482)
  • Cardiomyopathy, dilated, 1M
  • Cardiomyopathy, hypertrophic, 12 (612124)
OMIM
600824
Clinvar variants
Variants in CSRP3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Sep 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: CSRP3 was added gene: CSRP3 was added to Sudden cardiac death. Sources: Expert Review Green,North West GLH,London South GLH Mode of inheritance for gene: CSRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CSRP3 were set to 27532257; 28369730; 18505755 Phenotypes for gene: CSRP3 were set to Cardiomyopathy, familial hypertrophic, 12; ?Cardiomyopathy, dilated, 1M (607482); Cardiomyopathy, dilated, 1M; Cardiomyopathy, hypertrophic, 12 (612124)