Hypertrophic cardiomyopathy
Gene: VCL
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.Created: 2 Dec 2019, 11:26 a.m. | Last Modified: 2 Dec 2019, 11:26 a.m.
Panel Version: 1.81
Gene currently tested on Manchester cardiac gene panel. Only class 1-3 variants detected to date. 38 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: limited association with hypertrophic cardiomyopathy 15 (accessed 29/01/2019).Created: 19 Sep 2019, 9:59 a.m. | Last Modified: 19 Sep 2019, 9:59 a.m.
Panel Version: 1.74
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cardiomyopathy, dilated, 1W (611407); Cardiomyopathy, hypertrophic, 15 (613255)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Cardiomyopathy, hypertrophic, 15 (613255)Created: 25 Mar 2019, 4:30 p.m.
Reports on HGMD are VUS (2 downgraded)Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Source South West GLH was added to VCL. Mode of inheritance for gene VCL was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Source North West GLH was added to VCL. Mode of inheritance for gene VCL was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Cardiomyopathy, dilated, 1W (611407); Cardiomyopathy, hypertrophic, 15 (613255) for gene: VCL Publications for gene VCL were changed from to 27532257; 28369730
VCL was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list
VCL was added to Hypertrophic Cardiomyopathypanel. Sources: Radboud University Medical Center, Nijmegen