Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes CLCN7-RELATED OSTEOPETROSIS 611490 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes CLCN7-RELATED OSTEOPETROSIS, Osteopetrosis, autosomal recessive 4, OMIM:611490, Osteopetrosis, autosomal dominant 2, OMIM:166600, Hypopigmentation, organomegaly, and delayed myelination and development, OMIM:618541 |
Green in OsteopetrosisR-numbers: R104.4 Signed-off version 1.1 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Osteopetrosis, autosomal recessive 4 611490, Osteopetrosis, autosomal dominant 2 166600 |
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 Osteopetrosis, autosomal recessive 4, OMIM:611490, Osteopetrosis, autosomal dominant 2, OMIM:166600 |