Moyamoya disease

Gene: ACTA2

Amber List (moderate evidence)

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

1 review

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
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Other
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

1 Apr 2016, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

ACTA2 was added to Moyamoya diseasepanel. Source: Radboud University Medical Center, Nijmegen

1 Apr 2016, Gel status: 1

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

ACTA2 was added to Moyamoya diseasepanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

8 Jan 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ACTA2 was created by ellenmcdonagh

8 Jan 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ACTA2 was added to Moyamoya diseasepanel. Sources: Other