Genomics England
GMS Panels
Panels
Genes and Entities

ACTC1

actin, alpha, cardiac muscle 1
OMIM: 102540
PanelMode of inheritanceDetails
7 panels
Green
in Arthrogryposis
R-numbers: R83
Signed-off version 7.7
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
distal arthrogryposis, MONDO:0019942
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.15
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ACTC1-related distal arthrogryposis with congenital heart disease
Green
in Dilated and arrhythmogenic cardiomyopathy
Component of the following Super Panels:
  • - Sudden unexplained death or survivors of a cardiac event
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R132
Signed-off version 2.32
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)
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.195
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Atrial septal defect 5 612794
Green
in Hypertrophic cardiomyopathy
Component of the following Super Panels:
  • - Sudden unexplained death or survivors of a cardiac event
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R131
Signed-off version 4.16
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
Green
in Paediatric disorders - additional genes
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.10
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Atrial septal defect 5, Cardiomyopathy, hypertrophic, 11, Cardiomyopathy, dilated, 1R, Left ventricular noncompaction 4
Green
in Paediatric or syndromic cardiomyopathy
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R135
Signed-off version 5.13
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypertrophic Cardiomyopathy, Cardiomyopathy, familial hypertrophic, 11, Cardiomyopathy, dilated, 1R, Left Ventricular Noncompaction Cardiomyopathy, Left ventricular noncompaction 4