PanelApp (stage)
  1. Genes and Genomic Entities
  2. UMOD

UMOD

uromodulin
OMIM: 191845, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Red UMOD in Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic


Level 2: Renal and urinary tract disorders
Version 0.117

Component of the following Super Panels:

  • Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel
  • Kidneyome_SuperPanel

    		•  review Unknown
    Sources
    • Expert Review Green
    • Expert Review Red
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services

    Green UMOD in Ciliopathies


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.54

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Glomerulocystic kidney disease with hyperuricemia and isosthenuria (MIM#609886)
    • Hyperuricemic nephropathy, familial juvenile 1 (MIM#162000)
    • Medullary cystic kidney disease 2 (MIM#603860)

    Green UMOD in Mendeliome


    Version 1.1891

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Glomerulocystic kidney disease with hyperuricemia and isosthenuria 609886
    • Hyperuricemic nephropathy, familial juvenile 1 162000
    • Medullary cystic kidney disease 2 603860

    Green UMOD in Renal Macrocystic Disease


    Level 2: Renal and urinary tract disorders
    Version 0.69

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Cystic Disease_SuperPanel

    		•  review Unknown
    Sources
    • Expert Review Green
    • KidGen_Cystic v38.1.0

    Green UMOD in Renal Tubulointerstitial Disease


    Level 2: Renal and urinary tract disorders
    Version 1.3

    Component of the following Super Panels:

  • Kidneyome_SuperPanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • KidGen_Tubulointerstitial v38.1.0
    Phenotypes
    • Autosomal Dominant Tubulointerstitial disease (ADTKD-UMOD)
    • Glomerulocystic kidney disease with hyperuricemia and isosthenuria 609886
    • Medullary cystic kidney disease 2, MIM# 603860

    Red UMOD in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.285

    		review Not set
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    • Victorian Clinical Genetics Services

    Green UMOD in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Nephropathy

    Red UMOD in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Tubulointerstitial kidney disease MIM#162000

    Green UMOD in Renal Tubulopathies and related disorders


    Level 2: Renal and urinary tract disorders
    Version 1.14

    Component of the following Super Panels:

  • Kidneyome_SuperPanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Hyperuricemic nephropathy, familial juvenile 1, MIM# 162000