ACTC1

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

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green ACTC1 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.427 Component of the following Super Panels: Neuromuscular Superpanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes MONDO:0019942 ACTC1 related distal arthrogrypsis
Green ACTC1 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.474	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Atrial septal defect 5, MIM# 612794 Tags founder
Green ACTC1 in Dilated Cardiomyopathy Level 2: Cardiovascular disorders Version 1.48 Component of the following Super Panels: Adult Cardiac SuperPanel Cardiomyopathy_Adult_SuperPanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1R, MIM# 613424 Tags for review
Green ACTC1 in Hypertrophic cardiomyopathy_HCM Level 2: Cardiovascular disorders Version 1.10 Component of the following Super Panels: Adult Cardiac SuperPanel Cardiomyopathy_Adult_SuperPanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, hypertrophic, 11 612098
Green ACTC1 in Mendeliome Version 1.3512	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Atrial septal defect 5 MIM#612794 Cardiomyopathy, dilated, 1R MIM#613424 Cardiomyopathy, hypertrophic, 11 MIM#612098 ACTC1 related distal arthrogryposis MONDO:0019942
Green ACTC1 in Additional findings_Adult Level 2: Screening Version 1.130	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Phenotypes Cardiomyopathy, dilated, 1R, MIM# 613424 Cardiomyopathy, hypertrophic, 11, MIM# 612098 Left ventricular noncompaction 4, MIM# 613424
Green ACTC1 in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 0.207	1 review	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
Red ACTC1 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category C gene BabySeq Category B gene Phenotypes Left ventricular noncompaction Cardiomyopathy, familial hypertrophic Cardiomyopathy, dilated Atrial septal defect
Red ACTC1 in Incidentalome_PREGEN_DRAFT Version 0.43	1 review	Unknown	Sources Expert Review Red NSW Health Pathology
Green ACTC1 in Fetal anomalies Version 1.465	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Atrial septal defect 5, MIM# 612794 Cardiomyopathy, hypertrophic, 11 MIM# 612098
Red ACTC1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene BabySeq Category B gene Expert Review Red Phenotypes Atrial septal defect Cardiomyopathy, familial hypertrophic Left ventricular noncompaction Cardiomyopathy, dilated
Green ACTC1 in Transplant Co-Morbidity Level 2: Screening Version 0.20	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1R, MIM# 613424 Cardiomyopathy, hypertrophic, 11, MIM# 612098 Left ventricular noncompaction 4, MIM# 613424