Cardiomyopathies - including childhood onsetGene: PLN
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, 1P OMIM#609909; Cardiomyopathy, hypertrophic, 18 OMIM#613874
Created: 25 Mar 2019, 4:30 p.m.
HGMD: 9 variants assoc with DCM but note appears to overlap of some variants with HCM, 2 x ?DM. All but one variant have multiple literature associated which is quite recent such as Walsh 2017 and Alfares 2015. 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. - paediatric case reported. Haghighi J. Clin. Invest. 111:869876 (2003). doi:10.1172/JCI200317892: reported two large families with PLN variants with DCM and identified homozygotes with earlier onset disease. Mouse model also demonstrated disease with the variants.
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 PLN.
gene: PLN was added gene: PLN was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH Mode of inheritance for gene: PLN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PLN were set to Cardiomyopathy, dilated, 1P; Cardiomyopathy, familial hypertrophic, 18,