UMOD

uromodulin
OMIM: 191845, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

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


Level 2: Renal and urinary tract disorders
Version 1.0

3 reviews 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
  • Victorian Clinical Genetics Services
  • Expert Review Green
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 Renal Macrocystic Disease


Level 2: Renal and urinary tract disorders
Version 1.0

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

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
  • Expert Review Green
  • Expert Review
  • Expert Review Green
Phenotypes
  • Hyperuricemic nephropathy, familial juvenile 1, MIM# 162000