ACVR2B

activin A receptor type 2B
OMIM: 602730
PanelMode of inheritanceDetails
2 panels
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Heterotaxy, Dextrocardia, Double outlet right ventricle, Transposition of the great arteries, Gut malrotation, polysplenia, right-sided spleen, asplenia
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 1.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Heterotaxy syndrome Heterotaxy, visceral, 4, autosomal, 613751