Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 2.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL 614748 |
R-numbers: R164 Signed-off version 1.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Epidermolysis bullosa, nonspecific, autosomal recessive, 615028, Junctional Epidermolysis bullosa, Interstitial Lung disease, Nephrotic syndrome and Epidermolysis bullosa syndrome |
Green in Fetal anomaliesR-numbers: R21 Signed-off version 1.92 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL |
Green in Proteinuric renal diseaseR-numbers: R195 Signed-off version 2.32 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital #614748 |
R-numbers: R257 Signed-off version 1.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 614748 |