Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS 609057 |
Green in Proteinuric renal diseaseR-numbers: R195 Signed-off version 4.13 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Nephropathy with pretibial epidermolysis bullosa and deafness, OMIM:609057, nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome, MONDO:0012190 |
R-numbers: R257 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Epidermolysis bullosa simplex 7, with nephropathy and deafness, OMIM:609057 |