Gastrointestinal neuromuscular disordersGene: ACTG2
Comment on list classification: Promoted from red to green due to expert review, and more than 10 cases/family reports in OMIM for different heterozygous variants identified in Visceral myopathy (which includes psuedo obstruction as a phenotype).
Created: 19 Oct 2016, 10:31 a.m.
26th October 2016: panel revised after expert review and further curation of the analysis, with then internal clinical review. Ready for promotion to version 1.
This gene has been classified as Green List (High Evidence).
ACTG2 was created by sleigh
ACTG2 was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Sources: Literature