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Severe Paediatric Disorders

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 14 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: ACTA2; Recommended initial gene rating: Green List (high evidence); Phenotypes: Aortic aneurysm, familial thoracic 6, 611788 (3) | Moyamoya disease 5, 614042 (3) | Multisystemic smooth muscle dysfunction syndrome, 613834 (3); Mode of inheritance: Autosomal dominant | ND | Autosomal dominant
Created: 20 Feb 2020, 5:15 p.m. | Last Modified: 20 Feb 2020, 5:15 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Multisystemic smooth muscle dysfunction syndrome, 613834
  • Moyamoya disease 5, 614042
  • Aortic aneurysm, familial thoracic 6, 611788
OMIM
102620
Clinvar variants
Variants in ACTA2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene ACTA2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene ACTA2 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Multisystemic smooth muscle dysfunction syndrome, 613834; Moyamoya disease 5, 614042; Aortic aneurysm, familial thoracic 6, 611788 for gene: ACTA2

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Multisystemic smooth muscle dysfunction syndrome, 613834; Moyamoya disease 5, 614042; Aortic aneurysm, familial thoracic 6, 611788 for gene: ACTA2

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Multisystemic smooth muscle dysfunction syndrome, 613834; Moyamoya disease 5, 614042; Aortic aneurysm, familial thoracic 6, 611788 for gene: ACTA2

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Aortic aneurysm, familial thoracic 6, 611788; Moyamoya disease 5, 614042; Multisystemic smooth muscle dysfunction syndrome, 613834 for gene: ACTA2

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to ACTA2.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to ACTA2. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: ACTA2 was added gene: ACTA2 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: ACTA2 was set to