Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.3 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes OSTEOGENESIS IMPERFECTA TYPE V 610967 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes OSTEOGENESIS IMPERFECTA TYPE V |
Green in Osteogenesis imperfectaR-numbers: R102 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Osteogenesis imperfecta, type V, 610967, Osteogenesis Imperfecta and Decreased Bone Density, skeletal dysplasias, c-14C>T IFITM5 testing |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 5.3 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Osteogenesis imperfecta, type V 610967 |