Genomics England
GMS Panels
Panels
Genes and Entities

ACVR2B

activin A receptor type 2B
OMIM: 602730
PanelMode of inheritanceDetails
2 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
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
Green
in Paediatric disorders - additional genes
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Heterotaxy syndrome Heterotaxy, visceral, 4, autosomal, 613751