Cardiomyopathy_Paediatric
Gene: ACTC1

ACTC1 (actin, alpha, cardiac muscle 1)
EnsemblGeneIds (GRCh38): ENSG00000159251
EnsemblGeneIds (GRCh37): ENSG00000159251
OMIM: 102540, Gene2Phenotype
ACTC1 is in 12 panels

1 review

Ivan Macciocca (Victorian Clinical Genetics Services)

Green List (high evidence)

curated by ClinGen and rated at Defintive (5 Sept 2017)
Created: 19 Jun 2020, 10:46 a.m. | Last Modified: 19 Jun 2020, 10:46 a.m.

Panel Version: 0.28

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
hypertrophic cardiomyopathy; left ventricular non compaction; dilated cardiomyopathy

Created: 19 Jun 2020, 10:46 a.m.
Last Modified: 19 Jun 2020, 10:46 a.m.
Panel version: Imported from Hypertrophic cardiomyopathy_HCM panel version 0.28

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
London South GLH
South West GLH
NHS GMS

Phenotypes

Cardiomyopathy, dilated, 1R
Left ventricular noncompaction 4
Left Ventricular Noncompaction Cardiomyopathy
Hypertrophic Cardiomyopathy
Cardiomyopathy, familial hypertrophic, 11

OMIM

102540

Clinvar variants

Variants in ACTC1

Penetrance

None

Panels with this gene

History Filter Activity

28 Jul 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ACTC1 was added gene: ACTC1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green Mode of inheritance for gene: ACTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACTC1 were set to Cardiomyopathy, dilated, 1R; Left ventricular noncompaction 4; Left Ventricular Noncompaction Cardiomyopathy; Hypertrophic Cardiomyopathy; Cardiomyopathy, familial hypertrophic, 11

Cardiomyopathy_Paediatric Gene: ACTC1