Paediatric pseudo-obstruction syndrome
Gene: ACTG2
The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 7:44 a.m. | Last Modified: 1 Feb 2023, 7:44 a.m.
Panel Version: 0.216
Review submitted on behalf of Dr. Anna Rybak and Dr. Osvaldo Borreli, Great Ormond Street Hospital for Children NHS Foundation Trust. Gene group: Myopathic PIPO/MMIHS. Protein function: enteric smooth muscle actingamma 2.Created: 20 Dec 2022, 3:32 p.m. | Last Modified: 20 Dec 2022, 3:32 p.m.
Panel Version: 0.2
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Altered ACTG2 protein in the muscularis propria leads to impaired contractility
Publications
Publications for gene: ACTG2 were set to 24676022; 24337657; 33729000
Publications for gene: ACTG2 were set to 24676022; 24337657; 33729000; 31848803
Publications for gene: ACTG2 were set to
Gene: actg2 has been classified as Green List (High Evidence).
Mode of inheritance for gene: ACTG2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ACTG2 were changed from Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, OMIM:619431 to Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, OMIM:619431; Visceral myopathy 1, OMIM:155310
Phenotypes for gene: ACTG2 were changed from to Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, OMIM:619431
gene: ACTG2 was added gene: ACTG2 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: ACTG2 was set to