Genomics England
GMS Panels
Panels
Genes and Entities

ACTA2

actin, alpha 2, smooth muscle, aorta
OMIM: 102620
PanelMode of inheritanceDetails
4 panels
Green
in Cerebral vascular malformations
R-numbers: R336
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Moyamoya disease 5, Moyamoya Disease, Moyamoya disease 5,614042, Aortic aneurysm familial thoracic 6,611788, Multisystemic smooth muscle dysfunction syndrome,613834
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 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
AORTIC ANEURYSM, FAMILIAL THORACIC 6, MOYAMOYA DISEASE 5
Green
in Thoracic aortic aneurysm and dissection
R-numbers: R125
Signed-off version 2.1
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