Sudden cardiac death - previous panel
Gene: ACTN2EnsemblGeneIds (GRCh38): ENSG00000077522
EnsemblGeneIds (GRCh37): ENSG00000077522
OMIM: 102573, Gene2Phenotype
ACTN2 is in 10 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
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.
James Eden (Manchester)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- London South GLH
- North West GLH
- Expert Review Green
- London South GLH
- North West GLH
- Expert Review Green
- Phenotypes
-
- Cardiomyopathy, dilated, 1AA, with or without LVNC (612158)
- Cardiomyopathy, hypertrophic, 23, with or without LVNC (612158)
- Dilated Cardiomyopathy, Dominant
- OMIM
- 102573
- Clinvar variants
- Variants in ACTN2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Progressive cardiac conduction disease
- Hereditary neuropathy or pain disorder
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Dilated Cardiomyopathy and conduction defects
- Hereditary neuropathy
- Dilated and arrhythmogenic cardiomyopathy
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)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