ACTG2

actin, gamma 2, smooth muscle, enteric
OMIM: 102545
PanelMode of inheritanceDetails
2 panels
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Visceral myopathy 155310, Fetal Megacystis
R-numbers: R257
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Berdon syndrome, visceral myopathy, Visceral myopathy (Megacystis-microcolon intestinal hypoperistalsis syndrome, Berdon syndrome) 155310, Megacystis-microcolon intestinal hypoperistalsis syndrome