| Panel | Mode of inheritance | Details |
|---|---|---|
8 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes VITREORETINOPATHY EXUDATIVE TYPE 4 601813, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME 259770, HIGH BONE MASS TRAIT 601884, OSTEOPETROSIS AUTOSOMAL DOMINANT TYPE 1 607634, ENDOSTEAL HYPEROSTOSIS WORTH TYPE 144750 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes VITREORETINOPATHY EXUDATIVE TYPE 4, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, ENDOSTEAL HYPEROSTOSIS WORTH TYPE, OSTEOPETROSIS AUTOSOMAL DOMINANT TYPE 1, HIGH BONE MASS TRAIT |
Green in Osteogenesis imperfectaR-numbers: R102 Signed-off version 4.0 | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Phenotypes Osteogenesis Imperfecta and Decreased Bone Density, skeletal dysplasias |
Green in OsteopetrosisR-numbers: R104.4 Signed-off version 1.1 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Osteopetrosis, autosomal dominant 1 607634, Osteosclerosis 144750, Hyperostosis, endosteal 144750, [Bone mineral density variability 1] 601884, van Buchem disease, type 2 607636 |
Green in Polycystic liver diseaseR-numbers: R173 Signed-off version 1.26 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Polycystic liver disease 4 with or without kidney cysts, OMIM:617875 |
Green in Retinal disordersR-numbers: R32 Signed-off version 7.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Eye Disorders, Exudative vitreoretinopathy 4 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 7.0 | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Phenotypes Exudative vitreoretinopathy 4 601813, [Bone mineral density variability 1] 601884, Osteopetrosis, autosomal dominant 1 607634, Osteosclerosis 144750, van Buchem disease, type 2 607636, Osteoporosis-pseudoglioma syndrome 259770, Hyperostosis, endosteal 144750, {Osteoporosis} 166710 |
Green in Structural eye diseaseR-numbers: R36 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Osteopetrosis, autosomal dominant 1, 607634, Osteoporosis-pseudoglioma syndrome, 259770, van Buchem disease, type 2, Exudative vitreoretinopathy 4, 601813, Eye Disorders |