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 0.411 Component of the following Super Panels: Neuromuscular Superpanel	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 0.418	review	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 1.33 Component of the following Super Panels: Adult Cardiac SuperPanel Cardiomyopathy_Adult_SuperPanel	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 0.178 Component of the following Super Panels: Adult Cardiac SuperPanel Cardiomyopathy_Adult_SuperPanel	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 1.1891	review	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 0.166	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 0.192	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	review	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	review	Unknown	Sources Expert Review Red NSW Health Pathology
Green ACTC1 in Fetal anomalies Version 1.255	review	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 BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	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 Superpanel Level 2: Screening Version 0.18	review	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