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  3. ACTG2
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Fetal anomalies

Gene: ACTG2

Green List (high evidence)
ACTG2 (actin, gamma 2, smooth muscle, enteric)
EnsemblGeneIds (GRCh38): ENSG00000163017
EnsemblGeneIds (GRCh37): ENSG00000163017
OMIM: 102545, Gene2Phenotype
ACTG2 is in 9 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Additional evidence from PMID:30712878: De novo variant identified in ACTG2 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).
Created: 18 Apr 2019, 3:57 p.m.
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: keep on the Fetal anomalies panel as a Green gene.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed.
Created: 11 Dec 2018, 9:04 a.m.
In the original PAGE file, MOP listed as All missense/in frame and Uncertain.
Created: 8 Nov 2018, 4:45 p.m.

Publications

Mode of pathogenicity
Other - please provide details in the comments

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

Panel version: 0.186

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • PAGE Additional Gene List
  • Expert Review Green
Phenotypes
  • Visceral myopathy 155310
  • Fetal Megacystis
OMIM
102545
Clinvar variants
Variants in ACTG2
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

14 May 2020, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: ACTG2 were set to 25998219; 30712878

12 May 2020, Gel status: 3

Set mode of pathogenicity

Rebecca Foulger (Genomics England curator)

Mode of pathogenicity for gene: ACTG2 was changed from to Other

12 May 2020, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: ACTG2 were changed from Visceral myopathy 155310 to Visceral myopathy 155310; Fetal Megacystis

12 May 2020, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: ACTG2 were set to

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes Visceral myopathy 155310 for gene: ACTG2

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: ACTG2 was added gene: ACTG2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: ACTG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ACTG2 were set to Visceral myopathy 155310