Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS 609057 |
Green in Proteinuric renal diseaseComponent of the following Super Panels:
R-numbers: R195 Signed-off version 4.15 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Nephropathy with pretibial epidermolysis bullosa and deafness, OMIM:609057, nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome, MONDO:0012190 |