Hypertrophic cardiomyopathy
Gene: CSRP3
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.Created: 2 Dec 2019, 11:26 a.m. | Last Modified: 2 Dec 2019, 11:26 a.m.
Panel Version: 1.81
Cardiomyopathy, hypertrophic, 12. 612124Created: 25 Mar 2019, 4:30 p.m.
Rare HCM gene. Strong evidence: 28082330. Well established geneCreated: 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
Gene on Royal Brompton diagnostic panel. Moderate evidence for HCM association in PMID: 30681346, and ClinGen knowledge base (https://search.clinicalgenome.org/kb/gene-validity/10067). Likely rare cause, and not reported in our lab so far, but still valid as 'green' gene.Created: 19 Mar 2019, 5:37 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Comment on list classification: Though this is a rare cause of HCM, the overall decision in the NHSE GMS Cardiology Specialist Group meeting call on 25th January 2019 was to keep this gene as Green on this panel.Created: 4 Mar 2019, 8:52 p.m.
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: 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
Inappropriate for diagnostic use; on multiple diagnostic panels but evidence for disease association is limited.Created: 21 Nov 2017, 3:09 p.m.
Mode of inheritance
Unknown
Comment when marking as ready: On Manchester HCM diagnostic panelCreated: 11 Feb 2016, 3:04 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: CSRP3 were set to 27532257; 28369730
Gene: csrp3 has been classified as Green List (High Evidence).
Gene: csrp3 has been classified as Green List (High Evidence).
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; 28369730 Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
CSRP3 was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list
Model of inheritance for gene CSRP3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
CSRP3 was added to Hypertrophic Cardiomyopathypanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
Model of inheritance for gene CSRP3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
CSRP3 was added to Hypertrophic Cardiomyopathypanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
CSRP3 was added to Hypertrophic Cardiomyopathypanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN