| Panel | Mode of inheritance | Details |
|---|---|---|
4 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.48 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes PLS3-related diaphragmatic hernia and body-wall defects, PLS3-related osteoporosis with fractures, OMIM:300910 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.80 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Diaphragmatic hernia 5, X-linked, OMIM:306950 |
Green in Osteogenesis imperfectaR-numbers: R102 Signed-off version 4.9 | 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 7.26 | 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 |