Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes SCHIMKE IMMUNOOSSEOUS DYSPLASIA 242900 |
Green in Pigmentary skin disordersR-numbers: R236 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Schimke immunoosseous dysplasia, OMIM:242900 |
R-numbers: R15 Signed-off version 4.123 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Schimke immunoosseous dysplasia 242900, Schimke disease, Short stature, spondiloepiphyseal dysplasia, intrauterine growth retardation, nephropathy, bacterial, viral, fungal infections, may present as SCID, bone marrow failure, Combined immunodeficiencies with associated or syndromic features |
Green in Proteinuric renal diseaseR-numbers: R195 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Schimke immunoosseous dysplasia #242900 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 4.31 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Schimke immunoosseous dysplasia 242900, Schimke immunoosseous dysplasia 242900 |
R-numbers: R257 Signed-off version 3.11 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Schimke immunoosseous dysplasia 242900 |