Groopman et al 2019 - Genes with diagnostic variants
Gene: ACTG2

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

1 review

Eleanor Williams (Genomics England Curator)

I don't know

From Groopman et al 2019 Table S7. Gene symbol: ACTG2; Inheritance: AD; Clinical diagnosis: Congenital or cystic renal disease; Genetic diagnosis: Visceral myopathy; OMIM phenotype MIM No.: 155310; Number of cases: 1
Created: 2 Jul 2019, 9:46 p.m. | Last Modified: 2 Jul 2019, 9:46 p.m.

Panel Version: 0.4

Created: 2 Jul 2019, 9:46 p.m.
Last Modified: 2 Jul 2019, 9:46 p.m.
Panel version: 0.4

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Red
Expert review red
Literature

Phenotypes

MIM 155310
Congenital or cystic renal disease
Visceral myopathy

OMIM

102545

Clinvar variants

Variants in ACTG2

Penetrance

None

Panels with this gene

History Filter Activity

2 Jul 2019, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

Source Expert Review Red was added to ACTG2.

2 Jul 2019, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: ACTG2 was added gene: ACTG2 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red Mode of inheritance for gene: ACTG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ACTG2 were set to MIM 155310; Congenital or cystic renal disease; Visceral myopathy

Groopman et al 2019 - Genes with diagnostic variants Gene: ACTG2