Cerebral vascular malformations

Gene: ACTA2

Green List (high evidence)

ACTA2 (actin, alpha 2, smooth muscle, aorta)
EnsemblGeneIds (GRCh38): ENSG00000107796
EnsemblGeneIds (GRCh37): ENSG00000107796
OMIM: 102620, Gene2Phenotype
ACTA2 is in 13 panels

3 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

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 rating
Created: 29 Nov 2019, 6:55 p.m. | Last Modified: 29 Nov 2019, 6:55 p.m.
Panel Version: 1.67

Alice Gardham (Genomics England)

I don't know

Only reported in four families to date. Moya Moya like phenotype. Recognised on G2P
Created: 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
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Other
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Moyamoya disease 5
  • Moyamoya Disease
  • Moyamoya disease 5,614042
  • Aortic aneurysm familial thoracic 6,611788
  • Multisystemic smooth muscle dysfunction syndrome,613834
OMIM
102620
Clinvar variants
Variants in ACTA2
Penetrance
Complete
Panels with this gene

History Filter Activity

29 Nov 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to ACTA2.

29 Nov 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ACTA2.

19 Dec 2016, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on the 19th December 2016

14 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

8 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

2 Nov 2016, Gel status: 2

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

2 Nov 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ACTA2 was created by ellenmcdonagh