Cerebral vascular malformations
Gene: ACTA2Comment on phenotypes: This gene is also associated with Aortic aneurysm familial thoracic 6,611788; Multisystemic smooth muscle dysfunction syndrome,613834Created: 25 Mar 2021, 1:59 p.m. | Last Modified: 25 Mar 2021, 1:59 p.m.
Panel Version: 2.9
Combined reviews with Ian Berry (YNELGH), Vijeya Ganesan (Clinical expert - GOSH / ICH) & GEL clinical team (Richard Scott / Helen Brittain): relevant phenotype and sufficient evidence for a green ratingCreated: 29 Nov 2019, 6:55 p.m. | Last Modified: 29 Nov 2019, 6:55 p.m.
Panel Version: 1.67
Only reported in four families to date. Moya Moya like phenotype. Recognised on G2PCreated: 1 Dec 2016, 4:45 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Moyamoya disease 5 614042
Gene is a DD and IF gene for moyamoya disease and aortic aneurysm.Created: 22 Apr 2016, 11 a.m.
Sourced from OMIM.Created: 8 Jan 2016, 2:05 p.m.
Phenotypes for gene: ACTA2 were changed from Moyamoya disease 5,614042; Aortic aneurysm familial thoracic 6,611788; Multisystemic smooth muscle dysfunction syndrome,613834 to Moyamoya disease 5, OMIM:614042
Phenotypes for gene: ACTA2 were changed from Moyamoya disease 5; Moyamoya Disease; Moyamoya disease 5,614042; Aortic aneurysm familial thoracic 6,611788; Multisystemic smooth muscle dysfunction syndrome,613834 to Moyamoya disease 5,614042; Aortic aneurysm familial thoracic 6,611788; Multisystemic smooth muscle dysfunction syndrome,613834
Source Yorkshire and North East GLH was added to ACTA2.
Source NHS GMS was added to ACTA2.
Promoted to version 1 on the 19th December 2016
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
ACTA2 was added to Cerebrovascular disorderspanel. Sources: Other,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
ACTA2 was created by ellenmcdonagh