Genomics England
GMS Panels
Panels
Genes and Entities

SP7

Sp7 transcription factor
OMIM: 606633
PanelMode of inheritanceDetails
3 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.195
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteogenesis imperfecta, type XII, OMIM:613849, Osteogenesis imperfecta type 12, MONDO:0013460
Green
in Osteogenesis imperfecta
R-numbers: R102
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteogenesis imperfecta, type XII, 613849, 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 6.16
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteogenesis imperfecta, type XII 613849