ACTA2

actin, alpha 2, smooth muscle, aorta
OMIM: 102620, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green ACTA2 in Vasculitis Level 2: Immunological disorders Version 0.82	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green ACTA2 in Aortopathy_Connective Tissue Disorders Level 2: Cardiovascular disorders Version 1.85	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Aortic aneurysm, familial thoracic 6, MIM# 611788
Green ACTA2 in Bleeding and Platelet Disorders Level 2: Haematological disorders Version 1.43	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Aortic aneurysm, familial thoracic 6, MIM# 611788
Green ACTA2 in Incidentalome Version 0.301	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Aortic aneurysm, familial thoracic 6, MIM# 611788 Multisystemic smooth muscle dysfunction syndrome, MIM# 613834 Tags cardiac
Green ACTA2 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 Aortic aneurysm, familial thoracic 6, MIM# 611788
Green ACTA2 in Leukodystrophy - paediatric Level 2: Neurology and neurodevelopmental disorders Version 0.308 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes multisystemic smooth muscle dysfunction syndrome MONDO:0013452
Green ACTA2 in Leukodystrophy - adult onset Level 2: Neurology and neurodevelopmental disorders Version 0.140 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes multisystemic smooth muscle dysfunction syndrome MONDO:0013452
Green ACTA2 in Gastrointestinal neuromuscular disease Level 2: Gastroenterological disorders Version 1.24 Component of the following Super Panels: Neuromuscular Superpanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Multisystemic smooth muscle dysfunction syndrome, MIM# 613834 Vascular aneurysms & dissections, patent ductus arteriosus, mydriasis
Green ACTA2 in Stroke Level 2: Neurology and neurodevelopmental disorders Version 1.16	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Multisystemic smooth muscle dysfunction syndrome MIM#613834
Green ACTA2 in Cerebral vascular malformations Level 2: Neurology and neurodevelopmental disorders Version 0.39 Component of the following Super Panels: Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Genomics England PanelApp Expert Review Green Phenotypes Multisystemic smooth muscle dysfunction syndrome,613834 Aortic aneurysm familial thoracic 6,611788 Moyamoya Disease Moyamoya disease 5 Moyamoya disease 5,614042
Amber ACTA2 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber BabySeq Category B gene Phenotypes Aortic aneurysm, familial thoracic
Green ACTA2 in Incidentalome_PREGEN_DRAFT Version 0.43	review	Unknown	Sources NSW Health Pathology Expert Review Green
Green ACTA2 in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Multisystemic smooth muscle dysfunction syndrome - MIM# 613834
Green ACTA2 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category B gene Phenotypes Aortic aneurysm, familial thoracic 6, MIM# 611788 Tags cardiac treatable
Green ACTA2 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 Aortic aneurysm, familial thoracic 6, MIM# 611788