Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.15 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes OSTEOGENESIS IMPERFECTA |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.195 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Osteogenesis imperfecta, type XV, OMIM:615220 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.51 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Osteogenesis imperfecta, type XV, 615220, {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221 |
Green in Osteogenesis imperfectaR-numbers: R102 Signed-off version 4.0 | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Phenotypes Osteogenesis imperfecta, type XV, OMIM:615220, {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, OMIM:615221 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 6.16 | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Phenotypes {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, OMIM:615221, Osteogenesis imperfecta, type XV, OMIM:615220 |