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  3. UMOD
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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

Created: 29 Jan 2021, 11:53 p.m.

Panel version: Imported from Metabolic renal disease panel version 0.12

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

Created: 19 May 2020, 11:42 p.m.
Last Modified: 19 May 2020, 11:42 p.m.
Panel version: Imported from Metabolic renal disease panel version Imported from Mendeliome panel version Imported from Ciliopathies panel version 0.161

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
Created: 27 Nov 2019, 11:32 p.m.
Last Modified: 27 Nov 2019, 11:32 p.m.
Panel version: Imported from Metabolic renal disease panel version Imported from Mendeliome panel version Imported from Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS 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