Dilated Cardiomyopathy and conduction defects
Gene: CSRP3
OMIM#607482 ?Cardiomyopathy, dilated, 1M; OMIM#612124 Cardiomyopathy, hypertrophic, 12Created: 25 Mar 2019, 4:30 p.m.
7 variants on HGMD only two DM. In reviews: Dalin 2017 International Journal of Cardiology 228 (2017) 742748 - no variants detected, Hershberger 2013 Nat Rev Cardiol 10:531.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
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.
Gene currently tested on Manchester cardiac gene panel. 33 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: no stated association with DCM, 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
Comment when marking as ready: On Manchester diagnostic panelCreated: 14 Feb 2016, 4:13 p.m.
Source South West GLH was added to CSRP3. Mode of inheritance for gene CSRP3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Source London South GLH was added to CSRP3.
Source North West GLH was added to CSRP3. Added phenotypes Cardiomyopathy, hypertrophic, 12 (612124); ?Cardiomyopathy, dilated, 1M (607482) for gene: CSRP3 Publications for gene CSRP3 were changed from to 27532257; 18505755 Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene CSRP3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
CSRP3 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert list,Emory Genetics Laboratory,UKGTN
Model of inheritance for gene CSRP3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
CSRP3 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert list,Emory Genetics Laboratory,UKGTN
Model of inheritance for gene CSRP3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
CSRP3 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert list,Emory Genetics Laboratory,UKGTN
Model of inheritance for gene CSRP3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
CSRP3 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert list,Emory Genetics Laboratory,UKGTN
CSRP3 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert list,Emory Genetics Laboratory,UKGTN