Cerebral vascular malformations
Gene: ACTA2EnsemblGeneIds (GRCh38): ENSG00000107796
EnsemblGeneIds (GRCh37): ENSG00000107796
OMIM: 102620, Gene2Phenotype
ACTA2 is in 13 panels
4 reviews
Ivone Leong (Genomics England Curator)
Comment 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
Louise Daugherty (Genomics England Curator)
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
Alice Gardham (Genomics England)
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
Ellen McDonagh (Genomics England Curator)
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.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Yorkshire and North East GLH
- NHS GMS
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Other
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Moyamoya disease 5, OMIM:614042
- OMIM
- 102620
- Clinvar variants
- Variants in ACTA2
- Penetrance
- Complete
- Panels with this gene
-
- Unexplained young onset end-stage renal disease - additional genes
- Thoracic aortic aneurysm or dissection (GMS)
- Unexplained kidney failure in young people
- DDG2P
- Fetal anomalies
- Thoracic aortic aneurysm or dissection
- Gastrointestinal neuromuscular disorders
- Ehlers Danlos syndrome with a likely monogenic cause
- Paediatric pseudo-obstruction syndrome
- Cerebral vascular malformations
- Pneumothorax - familial
- Intellectual disability
- CAKUT
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)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
Set Phenotypes
Eleanor Williams (Genomics England Curator)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
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to ACTA2.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to ACTA2.
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on the 19th December 2016
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)ACTA2 was added to Cerebrovascular disorderspanel. Sources: Other,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Created
Ellen McDonagh (Genomics England Curator)ACTA2 was created by ellenmcdonagh