SP7

Sp7 transcription factor
OMIM: 606633
PanelMode of inheritanceDetails
3 panels
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteogenesis imperfecta, type XII, OMIM:613849, Osteogenesis imperfecta type 12, MONDO:0013460
R-numbers: R102
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteogenesis imperfecta, type XII, 613849, 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, type XII 613849