Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes SOST-Related Sclerosing Bone Dysplasias 122860, Sclerosteosis 1, 269500, Craniodiaphyseal dysplasia, autosomal dominant, 122860 |
Green in OsteopetrosisR-numbers: R104.4 Signed-off version 1.1 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Sclerosteosis 1 269500, Craniodiaphyseal dysplasia, autosomal dominant 122860, Van Buchem disease 239100 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 6.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Craniodiaphyseal dysplasia, autosomal dominant 122860, Van Buchem disease 239100, Sclerosteosis 1 269500 |