Panel | Mode of inheritance | Details |
---|---|---|
8 panels | ||
Green in ArthrogryposisR-numbers: R83 Signed-off version 7.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Bohring-Opitz syndrome 605039 |
Green in CleftingComponent of the following Super Panels:
Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes BOHRING-OPITZ SYNDROME, BOPS |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes BOHRING-OPITZ SYNDROME 605039 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes BOHRING-OPITZ SYNDROME |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Bohring-Opitz syndrome, 605039Myelodysplastic syndrome, somatic, 614286, BOHRING-OPITZ SYNDROME |
Green in Limb disordersComponent of the following Super Panels:
Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Bohring-Opitz syndrome, 605039 |
R-numbers: R100 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Bohring-Opitz syndrome, 605039, Metopic synostosis frequently associated with Bohring-Opitz syndrome |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Bohring-Opitz syndrome 605039 |