1. Genes and Genomic Entities
  2. UMOD

UMOD

uromodulin
OMIM: 191845, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels
Red UMOD in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.24

review Not set
Sources
  • Emory Genetics Laboratory
Green UMOD in Tubulointerstitial kidney disease


Level 2: Renal
Version 3.15
Latest signed off version: v3.5 (30 Apr 2025)

Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Medullary cystic kidney disease 2 MIM 603860
    • Familial juvenile hyperuricemic nephropathy 1 MIM 162000
    Green UMOD in Cystic kidney disease


    Level 2: Renal
    Version 8.5
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Cystic renal disease
  • Unexplained young onset end-stage renal disease

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • UKGTN
    Phenotypes
    • Medullary Cystic Kidney Disease 2
    • Hyperuricemic nephropathy, familial juvenile 1, 162000
    Green UMOD in Unexplained kidney failure in young people

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 1.124

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    • Other
    • Radboud University Medical Center, Nijmegen
    • Expert Review
    • UKGTN
    • Expert list
    • Eligibility statement prior genetic testing
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Glomerulocystic kidney disease with hyperuricemia and isosthenuria 609886
    • Hyperuricemic nephropathy, familial juvenile 1 162000
    • Medullary cystic kidney disease 2 603860
    Red UMOD in Primary ciliary disorders

    Level 3: Respiratory ciliopathies
    Level 2: Ciliopathies
    Version 1.56

    		review Not set
    Sources
    • Emory Genetics Laboratory
    Phenotypes
    • ciliopathies
    Red UMOD in Skeletal dysplasia


    Level 2: Musculoskeletal
    Version 8.33
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review Not set
    Sources
    • Emory Genetics Laboratory
    Red UMOD in CAKUT

    Level 3: Structural renal and urinary tract disease
    Level 2: Renal and urinary tract disorders
    Version 1.181

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Uromodulin-associated kidney disease
    • Medullary Cystic Kidney Disease 2
    • Hyperuricemic nephropathy, familial juvenile 1, 162000
    Green UMOD in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.642

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Familial juvenile hyperuricaemic nephropathy (Disorders of purine metabolism)
    • Cystic kidney disease
    • Unexplained kidney failure in young people
    Green UMOD in Likely inborn error of metabolism


    Level 2: Metabolic
    Version 8.91
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • London North GLH
    • NHS GMS
    Phenotypes
    • Cystic kidney disease
    • Unexplained kidney failure in young people
    • Familial juvenile hyperuricaemic nephropathy (Disorders of purine metabolism)
    Green UMOD in Renal tubulopathies


    Level 2: Renal
    Version 5.11
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Hyperuricemic nephropathy, familial juvenile 1, 162000
    • Glomerulocystic kidney disease with hyperuricemia and isosthenuria, 609886
    • Medullary cystic kidney disease 2, 603860
    Red UMOD in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.180

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • UKGTN
    • Emory Genetics Laboratory
    • Expert list
    Phenotypes
    • Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel
    Red UMOD in Renal ciliopathies


    Level 2: Renal
    Version 4.7
    Latest signed off version: v4.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Cystic renal disease
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • Unexplained young onset end-stage renal disease

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Expert list
    • Emory Genetics Laboratory
    • UKGTN
    Phenotypes
    • Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel
    Red UMOD in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH