ACTA2

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

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green ACTA2 in Cerebral vascular malformations Level 2: Neurology Version 4.10 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Yorkshire and North East GLH NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Other Phenotypes Moyamoya disease 5, OMIM:614042
Green ACTA2 in Gastrointestinal neuromuscular disorders Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.30	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Multisystemic smooth muscle dysfunction syndrome, OMIM:613834
Red ACTA2 in Pneumothorax - familial Level 2: Respiratory Version 3.6 Latest signed off version: v3.0 (22 Mar 2023)	review	Not set	Sources NHS GMS
Red ACTA2 in Unexplained kidney failure in young people Level 3: Disorders of function Level 2: Renal and urinary tract disorders Version 1.124	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Red Phenotypes Multi system smooth muscle dysfunction
Green ACTA2 in Thoracic aortic aneurysm or dissection (GMS) Level 2: Cardiology Version 4.5 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources North West GLH South West GLH London South GLH Expert Review Green South West GLH London South GLH North West GLH Phenotypes Aortic aneurysm, familial thoracic 6, 611788 Aortic aneurysm, familial thoracic 6 (611788) Thoracic aortic aneurysm and dissection Multisystemic smooth muscle dysfunction syndrome, 613834 Moyamoya disease 5 (614042) Thoracic Aortic Aneurysms and Aortic Dissections Multisystemic smooth muscle dysfunction syndrome (613834) Moyamoya disease 5, 614042 Isolated familial thoracic aortic aneurysms and dissection
Green ACTA2 in Thoracic aortic aneurysm or dissection Level 3: Connective tissue disorders and aortopathies Level 2: Cardiovascular disorders Version 1.129	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH London South GLH North West GLH Expert Review Green Eligibility statement prior genetic testing UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Expert list Emory Genetics Laboratory Phenotypes Aortic aneurysm, familial thoracic 6, 611788 Thoracic Aortic Aneurysms and Aortic Dissections Moyamoya disease 5 (614042) Thoracic aortic aneurysm and dissection Moyamoya disease 5, 614042 Isolated familial thoracic aortic aneurysms and dissection Multisystemic smooth muscle dysfunction syndrome (613834) Aortic aneurysm, familial thoracic 6 (611788) Multisystemic smooth muscle dysfunction syndrome, 613834
Red ACTA2 in CAKUT Level 3: Structural renal and urinary tract disease Level 2: Renal and urinary tract disorders Version 1.181	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert Review Phenotypes Multi system smooth muscle dysfunction
Amber ACTA2 in Ehlers Danlos syndrome with a likely monogenic cause Level 2: Musculoskeletal Version 4.6 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Emory Genetics Laboratory Expert list Phenotypes Aortic aneurysm, familial thoracic 6, OMIM:611788
Green ACTA2 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 Expert Review Green PAGE DD-Gene2Phenotype Phenotypes AORTIC ANEURYSM, FAMILIAL THORACIC 6 MOYAMOYA DISEASE 5
Green ACTA2 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 Expert Review Green DD-Gene2Phenotype Phenotypes AORTIC ANEURYSM, FAMILIAL THORACIC 6 611788 MOYAMOYA DISEASE 5 614042
Amber ACTA2 in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Aortic aneurysm, familial thoracic 6, 611788 Multisystemic smooth muscle dysfunction syndrome, 613834 Moyamoya disease 5, 614042
Green ACTA2 in Paediatric pseudo-obstruction syndrome Level 2: Gastrohepatology Version 2.5 Latest signed off version: v2.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Multisystemic smooth muscle dysfunction syndrome, OMIM:613834
Red ACTA2 in Unexplained young onset end-stage renal disease - additional genes Level 2: Renal Version 1.4 Latest signed off version: v1.1 (30 Apr 2025) Component of the following Super Panels: Unexplained young onset end-stage renal disease	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes Smooth muscle dysfunction syndrome, OMIM:613834