Genomics England
GMS Panels
Panels
Genes and Entities

UMOD

uromodulin
OMIM: 191845
PanelMode of inheritanceDetails
5 panels
Green
in Cystic kidney disease
Component of the following Super Panels:
  • - Cystic renal disease
Signed-off version 4.19
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 metabolism - targeted testing not possible
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 4.78
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 tubulopathies
R-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 disease
R-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
Green
in Unexplained young onset end-stage renal disease
R-numbers: R257
Signed-off version 3.11
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