Sudden cardiac death - previous panel
Gene: ACTC1EnsemblGeneIds (GRCh38): ENSG00000159251
EnsemblGeneIds (GRCh37): ENSG00000159251
OMIM: 102540, Gene2Phenotype
ACTC1 is in 13 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. 66 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: definitive association with HCM (accessed 29/01/2019).Created: 14 Feb 2019, 1:38 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Atrial septal defect 5 (612794); Cardiomyopathy, dilated, 1R (613424); Cardiomyopathy, hypertrophic, 11 (612098); Left ventricular noncompaction 4 (613424)
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
-
- Atrial septal defect 5 (612794)
- Left ventricular noncompaction 4 (613424)
- Cardiomyopathy, dilated, 1R (613424)
- Hypertrophic Cardiomyopathy
- Cardiomyopathy, familial hypertrophic, 11
- Cardiomyopathy, hypertrophic, 11 (612098)
- Cardiomyopathy, dilated, 1R
- Left Ventricular Noncompaction Cardiomyopathy
- Left ventricular noncompaction 4
- OMIM
- 102540
- Clinvar variants
- Variants in ACTC1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary neuropathy
- Arthrogryposis
- Dilated and arrhythmogenic cardiomyopathy
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Paediatric disorders - additional genes
- Laterality disorders and isomerism
- Left Ventricular Noncompaction Cardiomyopathy
- Familial non syndromic congenital heart disease
- Hereditary neuropathy or pain disorder
- Hypertrophic cardiomyopathy
- Dilated Cardiomyopathy and conduction defects
- DDG2P
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: ACTC1 was added gene: ACTC1 was added to Sudden cardiac death. Sources: Expert Review Green,North West GLH,London South GLH Mode of inheritance for gene: ACTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ACTC1 were set to 27532257; 26061005; 28369730 Phenotypes for gene: ACTC1 were set to Atrial septal defect 5 (612794); Left ventricular noncompaction 4 (613424); Cardiomyopathy, dilated, 1R (613424); Hypertrophic Cardiomyopathy; Cardiomyopathy, familial hypertrophic, 11; Cardiomyopathy, hypertrophic, 11 (612098); Cardiomyopathy, dilated, 1R; Left Ventricular Noncompaction Cardiomyopathy; Left ventricular noncompaction 4