Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in Amelogenesis imperfectaR-numbers: R340 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes skeletal dysplasia and amelogenesis imperfecta, Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (SSASKS) 618363, short stature, amelogenesis imperfect hypo mineralised, skeletal dysplasia, scoliosis |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Chondrodysplasia with multiple dislocations and amelogenesis imperfecta |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Chondrodysplasia with multiple dislocations and amelogenesis imperfecta |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 5.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes skeletal dysplasia and amelogenesis imperfecta, Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis 618363 |