Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Green in ArthrogryposisR-numbers: R83 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Bruck syndrome 1 259450 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes BRUCK SYNDROME TYPE 1 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Bruck syndrome 1, OMIM:259450, Bruck syndrome 1, MONDO:0009806, Osteogenesis imperfecta, type XI, OMIM:610968, Osteogenesis imperfecta type 11, MONDO:0012592 |
Green in Osteogenesis imperfectaR-numbers: R102 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Osteogenesis imperfecta, type XI, 610968, Osteogenesis Imperfecta, Recessive, Osteogenesis Imperfecta and Decreased Bone Density, skeletal dysplasias |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Osteogenesis Imperfecta, Recessive, Brucks syndrome 1 - 259450, Osteogenesis imperfecta, type XI, 610968, Brucks syndrome, Osteogenesis Imperfecta and Decreased Bone Density, skeletal dysplasias |