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

UMOD

uromodulin
OMIM: 191845, ClinGen, DECIPHER

9 panels

Panel Reviews Mode of inheritance Details
9 panels

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


Level 2: Renal and urinary tract disorders
Version 1.0

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

Green UMOD in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 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 2.0

3 reviews 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 1.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_Cystic v38.1.0
Phenotypes
  • Tubulointerstitial kidney disease, autosomal dominant, 1, MIM# 162000

Green UMOD in Renal Tubulointerstitial Disease


Level 2: Renal and urinary tract disorders
Version 2.0

1 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 1.0

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

Green UMOD in Additional findings_Paediatric


Level 2: Screening
Version 1.0

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

Red UMOD in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

1 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 2.0

3 reviews 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