Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in HydrocephalusR-numbers: R86 Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Osteopetrosis, autosomal recessive 7, OMIM:612301 |
Green in OsteopetrosisR-numbers: R104.4 Signed-off version 1.1 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Osteolysis, familial expansile 174810, {Paget disease of bone 2, early-onset} 602080, Osteopetrosis, autosomal recessive 7 612301 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 5.3 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Osteolysis, familial expansile 174810, Osteopetrosis, autosomal recessive 7 612301, Paget disease of bone 2, early-onset 602080 |