| Panel | Mode of inheritance | Details |
|---|---|---|
2 panels | ||
Green in Osteogenesis imperfectaR-numbers: R102 Signed-off version 4.0 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes X-linked osteoporosis and fractures, X-linked osteoporosis and fractures, X-linked Osteoporosis |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 5.3 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Bone mineral density QTL18, osteoporosis 300910 |