Genomics England
GMS Panels
Panels
Genes and Entities

ACTG2

actin, gamma 2, smooth muscle, enteric
OMIM: 102545
PanelMode of inheritanceDetails
4 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.122
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Visceral myopathy 155310, Fetal Megacystis
Green
in Paediatric disorders - additional genes
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.7
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CAKUT, Megacystis-microcolon intestinal hypoperistalsis syndrome, Visceral myopathy, 155310, Berdon syndrome
Green
in Paediatric pseudo-obstruction syndrome
R-numbers: R438
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, OMIM:619431, Visceral myopathy 1, OMIM:155310
Green
in Unexplained young onset end-stage renal disease
R-numbers: R257
Signed-off version 3.11
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