ACTC1

actin, alpha, cardiac muscle 1
OMIM: 102540
PanelMode of inheritanceDetails
5 panels
R-numbers: R135
Signed-off version 1.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypertrophic Cardiomyopathy, Cardiomyopathy, familial hypertrophic, 11, Cardiomyopathy, dilated, 1R, Left Ventricular Noncompaction Cardiomyopathy, Left ventricular noncompaction 4
Component of the following Super Panels:
  • - Sudden cardiac death
R-numbers: R132
Signed-off version 1.6
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cardiomyopathy, hypertrophic, 11 (612098), Left ventricular noncompaction 4 (613424), Cardiomyopathy, dilated, 1R (613424), Cardiomyopathy, dilated, 1R, Atrial septal defect 5 (612794)
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Atrial septal defect 5 612794
Component of the following Super Panels:
  • - Sudden cardiac death
R-numbers: R131
Signed-off version 2.11
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cardiomyopathy, familial hypertrophic, 11, Atrial septal defect 5 (612794), Left ventricular noncompaction 4 (613424), Cardiomyopathy, hypertrophic, 11 (612098), Cardiomyopathy, dilated, 1R (613424), Hypertrophic Cardiomyopathy
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 1.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Atrial septal defect 5, Cardiomyopathy, hypertrophic, 11, Cardiomyopathy, dilated, 1R, Left ventricular noncompaction 4