Genomics England
GMS Panels
Panels
Genes and Entities

ACVR1

activin A receptor type 1
OMIM: 102576
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
FIBRODYSPLASIA OSSIFICANS PROGRESSIVA 135100
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Fibrodysplasia ossificans progressiva 135100