Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Osteopetrosis, autosomal recessive 8, OMIM:615085, Autosomal recessive osteopetrosis 8, MONDO:0014040 |
Green in HydrocephalusR-numbers: R86 Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Osteopetrosis, autosomal recessive 8, OMIM:615085 |
Green in OsteopetrosisR-numbers: R104.4 Signed-off version 1.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Osteopetrosis, autosomal recessive 8 615085 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 5.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Osteopetrosis, autosomal recessive 8 615085 |