FKBP10

FK506 binding protein 10
OMIM: 607063
PanelMode of inheritanceDetails
4 panels
R-numbers: R83
Signed-off version 4.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bruck syndrome 1 259450
R-numbers: R21, R412
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bruck syndrome 1, OMIM:259450, Bruck syndrome 1, MONDO:0009806, Osteogenesis imperfecta, type XI, OMIM:610968, Osteogenesis imperfecta type 11, MONDO:0012592
R-numbers: R102
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteogenesis imperfecta, type XI, 610968, 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 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteogenesis Imperfecta, Recessive, Brucks syndrome 1 - 259450, Osteogenesis imperfecta, type XI, 610968, Brucks syndrome, Osteogenesis Imperfecta and Decreased Bone Density, skeletal dysplasias