Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Green in Cystic kidney diseaseComponent of the following Super Panels:
Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Medullary Cystic Kidney Disease 2, Hyperuricemic nephropathy, familial juvenile 1, 162000 |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Cystic kidney disease, Unexplained kidney failure in young people, Familial juvenile hyperuricaemic nephropathy (Disorders of purine metabolism) |
Green in Renal tubulopathiesR-numbers: R198 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Hyperuricemic nephropathy, familial juvenile 1, 162000, Glomerulocystic kidney disease with hyperuricemia and isosthenuria, 609886, Medullary cystic kidney disease 2, 603860 |
Green in Tubulointerstitial kidney diseaseR-numbers: R202 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Medullary cystic kidney disease 2 MIM 603860, Familial juvenile hyperuricemic nephropathy 1 MIM 162000 |
R-numbers: R257 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Glomerulocystic kidney disease with hyperuricemia and isosthenuria 609886, Uromodulin-associated kidney disease, Hyperuricemic nephropathy, familial juvenile 1 162000, Medullary cystic kidney disease 2 603860, Medullary Cystic Kidney Disease 2, Hyperuricemic nephropathy, familial juvenile 1, 162000 |