Table 2.

Genotype-phenotype correlation for visceral myopathy

Group	Inheritance	Phenotypes	Outcomes Observed
ACTG2:p.Arg178	De novo or dominant inherited	MMIHS-Most severe neonatal presentation with microcolon	High rates of mortality and transplantation
ACTG2:p.Arg257	De novo or dominant inherited	MMIHS or CIPO. Typically Severe neonatal presentation usually without microcolon and more variability	High rates of mortality and transplantation
ACTG2:p.Arg40	De novo or dominant inherited	MMIHS or CIPO. Severity range and more moderate or mild cases than groups above	Moderate to high rates of mortality and transplantation
ACTG2:Other Arg	De novo or dominant inherited	MMIHS or CIPO. Severity range and more moderate or mild cases than groups above	Moderate rates of mortality and transplantation
Non-Arg ACTG2	De novo or dominant inherited	MMIHS or CIPO. Severity range and more moderate or mild cases than groups above	Moderate to high rates of mortality and transplantation
ACTG2-negative	Sporadic or ultra-rare recessive	Less severe as a group than ACTG2 positive, but some severe cases	Low rates of mortality and transplantation

Abbreviations: CIPO, chronic intestinal pseudo-obstruction; MMIHS, megacystis-microcolon intestinal hypoperistalsis syndrome