Dilated Cardiomyopathy and conduction defects
Gene: RBM20
Cardiomyopathy, dilated, 1DD OMIM#613172Created: 25 Mar 2019, 4:30 p.m.
Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 (quoted as 2% of DCM patients) and Pugh (2014) Genet Med 16, 601 - mainly in paediatric cases. Also see Wells Circ Cardiovasc Genet. 2013 August ; 6(4): 317326 and Refaat Heart Rhythm. 2012 March ; 9(3): 390396.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. 53 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: gene not curated (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, 1DD (613172)
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 RBM20. Mode of inheritance for gene RBM20 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Source London South GLH was added to RBM20.
Source North West GLH was added to RBM20. Added phenotypes Cardiomyopathy, dilated, 1DD (613172) for gene: RBM20 Publications for gene RBM20 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 RBM20 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RBM20 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 RBM20 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RBM20 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 RBM20 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RBM20 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 RBM20 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RBM20 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
RBM20 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