Genomics England
GMS Panels
Panels
Genes and Entities

SERPINH1

serpin family H member 1
OMIM: 600943
PanelMode of inheritanceDetails
3 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.122
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteogenesis imperfecta, type X, OMIM:613848, Osteogenesis imperfecta type 10, MONDO:0013459
Green
in Osteogenesis imperfecta
R-numbers: R102
Signed-off version 4.0
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
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 4.31
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