Genomics England
GMS Panels
Panels
Genes and Entities

ACVR1

activin A receptor type 1
OMIM: 102576
PanelMode of inheritanceDetails
1 panel
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Fibrodysplasia ossificans progressiva 135100