Gastrointestinal neuromuscular disease
Gene: ACTG2
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
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
Publications for gene: ACTG2 were set to
Gene: actg2 has been classified as Green List (High Evidence).
Phenotypes for gene: ACTG2 were changed from Visceral myopathy, 155310 to Visceral myopathy, 155310; Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM# 619431
Mode of inheritance for gene: ACTG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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