ACTG2

actin, gamma 2, smooth muscle, enteric
OMIM: 102545
PanelMode of inheritanceDetails
3 panels
R-numbers: R21, R412
Signed-off version 2.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Visceral myopathy 155310, Fetal Megacystis
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CAKUT, Megacystis-microcolon intestinal hypoperistalsis syndrome, Visceral myopathy, 155310, Berdon syndrome
R-numbers: R257
Signed-off version 2.1
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