Dilated Cardiomyopathy and conduction defects
Gene: DESMOI was corrected.Created: 30 Sep 2019, 11:45 a.m. | Last Modified: 30 Sep 2019, 11:45 a.m.
Panel Version: 1.58
Cardiomyopathy, dilated, 1I OMIM# 604765;Myopathy, myofibrillar, 1 OMIM#601419; Scapuloperoneal syndrome, neurogenic, Kaeser type OMIM#181400Created: 25 Mar 2019, 4:30 p.m.
HGMD: 24 variants assoc DCM - 12 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.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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. 126 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: currently no stated association with DCM, definitive association with myofibrillar myopathy 1 (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, 1I, (604765); Myopathy, myofibrillar, 1 (601419); Scapuloperoneal syndrome, neurogenic, Kaeser type (181400)
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, 4:13 p.m.
Mode of inheritance for gene: DES was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Source South West GLH was added to DES. Mode of inheritance for gene DES was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Source London South GLH was added to DES.
Source North West GLH was added to DES. Added phenotypes Scapuloperoneal syndrome, neurogenic, Kaeser type (181400); Cardiomyopathy, dilated, 1I, (604765); Myopathy, myofibrillar, 1 (601419) for gene: DES Publications for gene DES 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 DES was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DES was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Expert list,UKGTN
Model of inheritance for gene DES was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DES was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Expert list,UKGTN
Model of inheritance for gene DES was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DES was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Expert list,UKGTN
Model of inheritance for gene DES was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DES was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Expert list,UKGTN
DES was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Expert list,UKGTN