SERPINH1

serpin family H member 1
OMIM: 600943
PanelMode of inheritanceDetails
2 panels
R-numbers: R102
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
{Preterm premature rupture of the membranes, susceptibility to}, 610504, Osteogenesis imperfecta, type X, 613848, Osteogenesis Imperfecta, Recessive, Osteogenesis Imperfecta and Decreased Bone Density, skeletal dysplasias
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteogenesis Imperfecta, Recessive, OI3, Osteogenesis Imperfecta and Decreased Bone Density, skeletal dysplasias, {Preterm premature rupture of the membranes, susceptibility to}, 610504, Osteogenesis imperfecta, type X, 613848