Hypertrophic cardiomyopathy

Gene: CSRP3

Green List (high evidence)

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

Green List (high evidence)

Cardiomyopathy, hypertrophic, 12. 612124

Created: 25 Mar 2019, 4:30 p.m.

Rare HCM gene. Strong evidence: 28082330. Well established gene

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

Green List (high evidence)

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

• 30681346

I don't know

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.

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

• 28369730
• 27532257

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

Red List (low evidence)

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 panel

Created: 11 Feb 2016, 3:04 p.m.

Green List (high evidence)

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