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  3. CSRP3
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Cardiomyopathy_Paediatric

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 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Sufficient number of families reported with good segregation data but agree caution needed in light of some of these variants being present at low frequency in the population.
Created: 20 Jun 2020, 6:29 a.m. | Last Modified: 20 Jun 2020, 6:29 a.m.
Panel Version: 0.53
Created: 20 Jun 2020, 6:29 a.m.
Last Modified: 20 Jun 2020, 6:29 a.m.
Panel version: Imported from Hypertrophic cardiomyopathy_HCM panel version 0.53

Ivan Macciocca (Victorian Clinical Genetics Services)

Green List (high evidence)

Assessed as MODERATE by ClinGen HCM working group PMID: 30681346
Associated with HCM in 4 families reported by a German group with some functional evidence and including 2 large multi-generational families with 6 and 8 affected relatives segregating the variants.
3 of the 4 variants reported in these families have a low frequency (up to 4 alleles) in Gnomad.
Assess variants in this gene with caution due to the limited number of families currently reported with pathogenic/likely[pathogenic variants in this gene.
Created: 19 Jun 2020, 1:08 p.m. | Last Modified: 19 Jun 2020, 1:09 p.m.
Panel Version: 0.28

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
hypertrophic cardiomyopathy

Publications

Created: 19 Jun 2020, 1:08 p.m.
Last Modified: 19 Jun 2020, 1:09 p.m.
Panel version: Imported from Hypertrophic cardiomyopathy_HCM panel version 0.28

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • South West GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, dilated, 1M
  • Cardiomyopathy, familial hypertrophic, 12
OMIM
600824
Clinvar variants
Variants in CSRP3
Penetrance
None
Panels with this gene

History Filter Activity

28 Jul 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CSRP3 was added gene: CSRP3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: CSRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CSRP3 were set to Cardiomyopathy, dilated, 1M; Cardiomyopathy, familial hypertrophic, 12