UMOD

uromodulin
OMIM: 191845, Gene2Phenotype

16 panels

Panel Reviews Mode of inheritance Details
16 panels

Red UMOD in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.12

review Not set
Sources
  • Emory Genetics Laboratory

Green UMOD in Tubulointerstitial kidney disease


Version 1.11
Latest signed off version: v1.3 (4 Mar 2020)

Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • 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 3: Structural renal and urinary tract disease
    Level 2: Renal and urinary tract disorders
    Version 2.26
    Latest signed off version: v2.2 (19 Feb 2020)

    Component of the following Super Panels:

  • Cystic renal disease
  • Renal superpanel - broad
  • Renal superpanel - narrow
  • 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 1.96

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    • Eligibility statement prior genetic testing
    • Other
    • Illumina TruGenome Clinical Sequencing Services
    • Expert Review
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert list
    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 1.32

    review Not set
    Sources
    • Emory Genetics Laboratory
    Phenotypes
    • ciliopathies

    Red UMOD in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.126
    Latest signed off version: v2.2 (13 Feb 2020)

    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 1.164

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • 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 Unexplained paediatric onset end-stage renal disease


    Version 1.20
    Latest signed off version: v1.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review Green
    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

    Green UMOD in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.486

    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 Inborn errors of metabolism


    Version 2.180
    Latest signed off version: v2.3 (17 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 2.27
    Latest signed off version: v2.23 (16 Oct 2020)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • 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 1.146

    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

    Green UMOD in Groopman et al 2019 - Genes with diagnostic variants


    Version 0.8

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert review green
    • Literature
    Phenotypes
    • Tubulointerstitial disease
    • Hypertensive nephropathy
    • 162000
    • Congenital or cystic renal disease
    • 603860
    • Nephropathy of unknown origin
    • Autosomal dominant tubulointerstitial kidney disease, UMOD-associated
    • Glomerulopathy
    • MIM 609886

    Red UMOD in Renal ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.42
    Latest signed off version: v1.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Cystic renal disease
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • Renal superpanel - broad
  • Renal superpanel - narrow
  • 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 or chorea or related movement disorder


    Version 1.156
    Latest signed off version: v1.137 (5 Aug 2021)

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

    Green UMOD in Severe Paediatric Disorders


    Version 1.84

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Glomerulocystic kidney disease with hyperuricemia and isosthenuria, 609886
    • Medullary cystic kidney disease 2, 603860
    • Hyperuricemic nephropathy, familial juvenile 1, 162000