Renal Tubulopathies and related disorders

Gene: UMOD

Green List (high evidence)

UMOD (uromodulin)
EnsemblGeneIds (GRCh38): ENSG00000169344
EnsemblGeneIds (GRCh37): ENSG00000169344
OMIM: 191845, Gene2Phenotype
UMOD is in 9 panels

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Gene is associated with multiple renal phenotypes.

Familial juvenile hyperuricemic (gouty) nephropathy (HNFJ) is characterised by elevated serum uric acid concentrations due to a low fractional excretion of uric acid, defective urinary concentrating ability, interstitial nephropathy, and progression to end-stage renal failure. Multiple families reported.
Sources: Expert Review
Created: 29 Jan 2021, 11:53 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hyperuricemic nephropathy, familial juvenile 1, MIM# 162000

Publications

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Expressed on renal primary cilia and well reported to cause cystic kidney disease
Created: 19 May 2020, 11:42 p.m. | Last Modified: 19 May 2020, 11:42 p.m.
Panel Version: 0.161

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Glomerulocystic kidney disease with hyperuricemia and isosthenuria (MIM#609886); Hyperuricemic nephropathy, familial juvenile 1 (MIM#162000); Medullary cystic kidney disease 2 (MIM#603860)

Publications

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

not a CAKUT gene
Created: 27 Nov 2019, 11:32 p.m. | Last Modified: 27 Nov 2019, 11:32 p.m.
Panel Version: 0.0

Details

Mode of Inheritance
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
OMIM
191845
Clinvar variants
Variants in UMOD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: UMOD was added gene: UMOD was added to Renal Tubulopathies and related disorders. Sources: Expert Review,Expert Review Green Mode of inheritance for gene: UMOD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: UMOD were set to 12471200; 12629136 Phenotypes for gene: UMOD were set to Hyperuricemic nephropathy, familial juvenile 1, MIM# 162000