Sudden cardiac death - previous panel
Gene: ACTN2
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: 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
gene: ACTN2 was added gene: ACTN2 was added to Sudden cardiac death. Sources: Expert Review Green,North West GLH,London South GLH Mode of inheritance for gene: ACTN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ACTN2 were set to 25224718; 27532257; 26312134 Phenotypes for gene: ACTN2 were set to Cardiomyopathy, dilated, 1AA, with or without LVNC (612158); Cardiomyopathy, hypertrophic, 23, with or without LVNC (612158); Dilated Cardiomyopathy, Dominant