Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in Bleeding and platelet disordersR-numbers: R90 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes 615888 ?Bleeding disorder, platelet-type, 18 |
Green in OsteopetrosisR-numbers: R104.4 Signed-off version 1.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ?Bleeding disorder, platelet-type, 18 615888 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 5.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Bleeding disorder, platelet-type, 18 615888, also with osteopetrosis like bone abnormalities and neurodevelopmental defects, Bleeding disorder, platelet-type, 18 615888 |