UMOD

PanelMode of inheritanceDetails
5 panels
Component of the following Super Panels:
  • - Cystic renal disease
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Medullary Cystic Kidney Disease 2, Hyperuricemic nephropathy, familial juvenile 1, 162000
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cystic kidney disease, Unexplained kidney failure in young people, Familial juvenile hyperuricaemic nephropathy (Disorders of purine metabolism)
R-numbers: R198
Signed-off version 2.23
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
R-numbers: R202
Signed-off version 1.3
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 1.2
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