Dilated Cardiomyopathy and conduction defects
Gene: ACTN2
OMIM#612158: Cardiomyopathy, dilated 1AA with or without LVNC and Cardiomyopathy, hypertrophic, 23, with or without LVNCCreated: 25 Mar 2019, 4:30 p.m.
11 variants on HGMD assoc with DCM - 5 classed as DM in a number of literature reviews. Note Walsh 2017 classes all variants found in their cohort as VUS. In reviews: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 and Pugh (2014) Genet Med 16, 601 - note no L pathogenic variants reported.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. Only class 1-3 variants detected to date. 47 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: currently no stated association with DCM, moderate association with intrinsic cardiomyopathy (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, 1AA, with or without LVNC (612158); Cardiomyopathy, hypertrophic, 23, with or without LVNC (612158)
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, 4:12 p.m.
Source South West GLH was added to ACTN2. Mode of inheritance for gene ACTN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Source London South GLH was added to ACTN2.
Source North West GLH was added to ACTN2. Added phenotypes Cardiomyopathy, dilated, 1AA, with or without LVNC (612158); Cardiomyopathy, hypertrophic, 23, with or without LVNC (612158) for gene: ACTN2 Publications for gene ACTN2 were changed from to 27532257; 25224718; 26312134 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 ACTN2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
ACTN2 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN
Model of inheritance for gene ACTN2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
ACTN2 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN
Model of inheritance for gene ACTN2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
ACTN2 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN
ACTN2 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN