| Panel | Mode of inheritance | Details |
|---|---|---|
4 panels | ||
Green in Cystic kidney diseaseComponent of the following Super Panels:
Signed-off version 7.0 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Dent disease 1, OMIM:300009, Hypophosphatemic rickets, OMIM:300554, Nephrolithiasis, type I, OMIM:310468, Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, OMIM:308990 |
Green in Nephrocalcinosis or nephrolithiasisComponent of the following Super Panels:
R-numbers: R256 Signed-off version 4.16 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Dent Disease, Dent disease, 300009, Nephrolithiasis, type I, 310468Hypophosphatemic rickets, 300554, Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990, Nephrocalcinosis with low molecular weight proteinuria and pregressive CKD |
Green in Proteinuric renal diseaseComponent of the following Super Panels:
R-numbers: R195 Signed-off version 4.15 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Dent disease, 300009, Nephrolithiasis, type I, 310468, Hypophosphatemic rickets, 300554, Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 7.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis 308990, Dent disease 300009, Nephrolithiasis, type I 310468, Hypophosphatemic rickets 300554 |