Paediatric or syndromic cardiomyopathy
Gene: VCL
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, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
Cardiomyopathy, dilated, 1W OMIM#611407; Cardiomyopathy, hypertrophic, 15 OMIM#613255Created: 25 Mar 2019, 4:30 p.m.
HGMD: 6/17 variants assoc with DCM listed as DM. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 and Pugh (2014) Genet Med 16, 601 - suggests identified in paediatric and infantile cases of DCM.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
Source NHS GMS was added to VCL.
gene: VCL was added gene: VCL was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH Mode of inheritance for gene: VCL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: VCL were set to Cardiomyopathy, familial hypertrophic, 15,; Cardiomyopathy, dilated, 1W