Dilated Cardiomyopathy and conduction defects
Gene: PLN
Cardiomyopathy, dilated, 1P OMIM#609909; Cardiomyopathy, hypertrophic, 18 OMIM#613874Created: 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. - Note not many variants in these three studies.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
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. 31 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: currently no stated association with DCM, definitive association with hypertrophic cardiomyopathy 3 (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, 1P (609909); Cardiomyopathy, hypertrophic, 18 (613874)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: On Manchester diagnostic panelCreated: 14 Feb 2016, 4:20 p.m.
Source South West GLH was added to PLN. Mode of inheritance for gene PLN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Source London South GLH was added to PLN.
Source North West GLH was added to PLN. Added phenotypes Cardiomyopathy, dilated, 1P (609909); Cardiomyopathy, hypertrophic, 18 (613874) for gene: PLN Publications for gene PLN were changed from to 27532257; 20186049 Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene PLN was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
PLN was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list,UKGTN
Model of inheritance for gene PLN was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
PLN was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list,UKGTN
Model of inheritance for gene PLN was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
PLN was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list,UKGTN
Model of inheritance for gene PLN was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
PLN was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list,UKGTN
PLN was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list,UKGTN