ACTC1

actin, alpha, cardiac muscle 1
OMIM: 102540, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green ACTC1 in Left Ventricular Noncompaction Cardiomyopathy Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Version 1.5	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Expert list Phenotypes Left ventricular noncompaction 4 Left Ventricular Noncompaction Cardiomyopathy
Green ACTC1 in Hypertrophic cardiomyopathy Level 2: Cardiology Version 5.29 Latest signed off version: v5.0 (30 Apr 2025) 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	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH London South GLH North West GLH Expert Review Green Expert list Illumina TruGenome Clinical Sequencing Services UKGTN Expert list UKGTN Illumina TruGenome Clinical Sequencing Services 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 ACTC1 in Dilated Cardiomyopathy and conduction defects Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Version 1.97	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH London South GLH North West GLH Expert Review Green UKGTN Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Expert list Phenotypes Atrial septal defect 5 (612794) Cardiomyopathy, hypertrophic, 11 (612098) Cardiomyopathy, dilated, 1R Left ventricular noncompaction 4 (613424) Cardiomyopathy, dilated, 1R (613424)
Amber ACTC1 in Familial non syndromic congenital heart disease Level 3: Congenital heart disease Level 2: Cardiovascular disorders Version 1.90	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Atrial septal defect 5, 612794
Green ACTC1 in Arthrogryposis Level 2: Neurology Version 9.24 Latest signed off version: v9.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes distal arthrogryposis, MONDO:0019942
Amber ACTC1 in Laterality disorders and isomerism Level 2: Respiratory Version 4.10 Latest signed off version: v4.0 (30 Apr 2025)	review	Not set	Sources Expert Review Amber NHS GMS
Green ACTC1 in Dilated and arrhythmogenic cardiomyopathy Level 2: Cardiology Version 3.11 Latest signed off version: v3.0 (30 Apr 2025) 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	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green UKGTN South West GLH Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH Expert list Emory Genetics Laboratory South West GLH London South GLH North West GLH Phenotypes Cardiomyopathy, hypertrophic, 11 (612098) Left ventricular noncompaction 4 (613424) Cardiomyopathy, dilated, 1R (613424) Cardiomyopathy, dilated, 1R Atrial septal defect 5 (612794)
Green ACTC1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources PAGE Additional Gene List Expert Review Green Phenotypes Atrial septal defect 5 612794
Green ACTC1 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ACTC1-related distal arthrogryposis with congenital heart disease
Red ACTC1 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.506	review	Not set	Sources NHS GMS South West GLH Emory Genetics Laboratory Phenotypes Cardiomyopathy
Green ACTC1 in Paediatric disorders - additional genes Level 2: Developmental disorders Version 7.31 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	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
Green ACTC1 in Paediatric or syndromic cardiomyopathy Level 2: Cardiology Version 7.96 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS South West GLH London South GLH Expert Review Green Phenotypes Hypertrophic Cardiomyopathy Cardiomyopathy, familial hypertrophic, 11 Cardiomyopathy, dilated, 1R Left Ventricular Noncompaction Cardiomyopathy Left ventricular noncompaction 4
Red ACTC1 in Hereditary neuropathy or pain disorder Level 2: Neurology Version 7.36 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources NHS GMS South West GLH Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy