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  3. ACTA2
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Fetal anomalies

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

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Moyamoya disease could present on an MRI. Action taken: Promoted ACTA2 gene rating from Amber to Green.
Created: 24 Mar 2019, 9:25 p.m.
Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for MOYAMOYA DISEASE 5; AORTIC ANEURYSM, FAMILIAL THORACIC 6.
Created: 12 Feb 2019, 2:32 p.m.
Rating in original PAGE file: 'both DD and IF' for MOYAMOYA DISEASE 5 and AORTIC ANEURYSM, FAMILIAL THORACIC 6.
Created: 6 Dec 2018, 10:07 a.m.
In the original PAGE file, MOP listed as All missense/in frame for both MOYAMOYA DISEASE 5 and AORTIC ANEURYSM, FAMILIAL THORACIC 6.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.148

History Filter Activity

24 Mar 2019, Gel status: 3

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

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

12 Feb 2019, Gel status: 2

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

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

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes AORTIC ANEURYSM, FAMILIAL THORACIC 6 for gene: ACTA2

8 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: ACTA2 was added gene: ACTA2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ACTA2 were set to MOYAMOYA DISEASE 5