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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 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Severe perinatal disorder, more than 20 unrelated families reported.
Created: 28 Oct 2021, 8:09 a.m. | Last Modified: 28 Oct 2021, 8:09 a.m.
Panel Version: 0.38

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM# 619431

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM# 619431
OMIM
102545
Clinvar variants
Variants in ACTG2
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

28 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: actg2 has been classified as Green List (High Evidence).

28 Oct 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ACTG2 were changed from Fetal Megacystis; Visceral myopathy 155310 to Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM# 619431

28 Oct 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ACTG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ACTG2 was added gene: ACTG2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: ACTG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ACTG2 were set to 31070878; 25998219; 30712878 Phenotypes for gene: ACTG2 were set to Fetal Megacystis; Visceral myopathy 155310 Mode of pathogenicity for gene: ACTG2 was set to Other