Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Component of the following Super Panels:
R-numbers: R29 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes osteoporosis, developmental delay |
Green in Osteogenesis imperfectaR-numbers: R102 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes juvenile osteoporosis, Osteopenia, Osteoporosis, recurrent fractures |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 4.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes juvenile osteoporosis, Osteopenia, Osteoporosis, recurrent fractures |