Genomics England

actin, alpha 2, smooth muscle, aorta

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Cerebral vascular malformations R-numbers: R336 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Moyamoya disease 5, OMIM:614042
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes AORTIC ANEURYSM, FAMILIAL THORACIC 6 611788, MOYAMOYA DISEASE 5 614042
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes AORTIC ANEURYSM, FAMILIAL THORACIC 6, MOYAMOYA DISEASE 5
Green in Paediatric pseudo-obstruction syndrome R-numbers: R438 Signed-off version 1.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Multisystemic smooth muscle dysfunction syndrome, OMIM:613834
Green in Thoracic aortic aneurysm or dissection (GMS) R-numbers: R125 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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