Genomics England
GMS Panels
Panels
Genes and Entities

ACTA2

actin, alpha 2, smooth muscle, aorta
OMIM: 102620
PanelMode of inheritanceDetails
5 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 5.0
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 5.0
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