Gastrointestinal neuromuscular disease

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 20 unrelated families reported.
Created: 15 Jul 2021, 10:39 p.m. | Last Modified: 15 Jul 2021, 10:39 p.m.
Panel Version: 0.40

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

OMIM - Marked inter- and intrafamilial variability, ranging from prenatal onset with severe symptoms to asymptomatic affected individuals

PMID: 24676022 - 15 patients (10 de novo) w/ Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome, were identified with missense mutations. 7 patients were diagnosed prenatally, multiple patients died in childhood.

PMID: 24337657 - 2 de novo patients w/ Congenital Distended Bladder, Microcolon, and Intestinal Hypoperistalsis. Patients were both symptomatic in infancy

PMID: 22960657/PMID: 26647307 - strongly suggests a dominant negative mechanism. Missense inhibit incorporation of actin monomers into filamentous structures, and gel contraction assay showed substantially decreased contractility with the mutant compared to wildtype. Coexpression of wildtype and mutant protein not performed.

Potential addition to congenital list but high variability in onset well reported.
Created: 10 Jun 2020, 12:53 a.m. | Last Modified: 10 Jun 2020, 12:53 a.m.
Panel Version: 0.63

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Visceral myopathy 155310

Publications

Mode of pathogenicity
Other

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Visceral myopathy, 155310
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM# 619431
OMIM
102545
Clinvar variants
Variants in ACTG2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Jul 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ACTG2 were set to

15 Jul 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).

15 Jul 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

15 Jul 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

14 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ACTG2 was added gene: ACTG2 was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green 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