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 0.93	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green ACTA2 in Aortopathy_Connective Tissue Disorders Level 2: Cardiovascular disorders Version 1.100	1 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 1.62	1 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 0.360	2 reviews	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 1.130	1 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 0.333 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	1 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 0.151 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	1 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 1.25 Component of the following Super Panels: Neuromuscular Superpanel	1 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 1.28	1 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 1.9 Component of the following Super Panels: Progressive Neurological Conditions	1 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	0 reviews	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	1 review	Unknown	Sources NSW Health Pathology Expert Review Green
Green ACTA2 in Fetal anomalies Version 1.465	1 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 Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	2 reviews	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 Level 2: Screening Version 0.20	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Aortic aneurysm, familial thoracic 6, MIM# 611788