Paediatric disorders - additional genes
Gene: ACTC1EnsemblGeneIds (GRCh38): ENSG00000159251
EnsemblGeneIds (GRCh37): ENSG00000159251
OMIM: 102540, Gene2Phenotype
ACTC1 is in 13 panels
1 review
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted from Red to Green as this gene is on multiple cardio version 1+ panels.Created: 26 Nov 2019, 2:40 p.m. | Last Modified: 26 Nov 2019, 2:40 p.m.
Panel Version: 0.36
This gene was submitted by Rebecca Whittington on behalf of the South West GLH, for inclusion on the Paediatric disorders panel (https://panelapp.genomicsengland.co.uk/panels/486/)Created: 26 Nov 2019, 2:38 p.m. | Last Modified: 26 Nov 2019, 2:38 p.m.
Panel Version: 0.35
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Atrial septal defect 5; Cardiomyopathy, dilated, 1R; Cardiomyopathy, hypertrophic, 11; Left ventricular noncompaction 4
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- South West GLH
- Phenotypes
-
- Atrial septal defect 5
- Cardiomyopathy, hypertrophic, 11
- Cardiomyopathy, dilated, 1R
- Left ventricular noncompaction 4
- OMIM
- 102540
- Clinvar variants
- Variants in ACTC1
- Penetrance
- None
- Panels with this gene
-
- Laterality disorders and isomerism
- Left Ventricular Noncompaction Cardiomyopathy
- Hereditary neuropathy
- Paediatric disorders - additional genes
- Dilated and arrhythmogenic cardiomyopathy
- Familial non syndromic congenital heart disease
- DDG2P
- Hypertrophic cardiomyopathy
- Dilated Cardiomyopathy and conduction defects
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Hereditary neuropathy or pain disorder
History Filter Activity
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: actc1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: actc1 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: ACTC1 was added gene: ACTC1 was added to Paediatric disorders - additional genes. Sources: South West GLH Mode of inheritance for gene: ACTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ACTC1 were set to Atrial septal defect 5; Cardiomyopathy, hypertrophic, 11; Cardiomyopathy, dilated, 1R; Left ventricular noncompaction 4