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  2. Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
  3. UMOD
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Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic

Gene: UMOD

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

3 reviews

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 Mendeliome panel version Imported from Ciliopathies panel version 0.161

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Gene is associated with a range of renal phenotypes.
Created: 12 Apr 2020, 11:44 a.m. | Last Modified: 12 Apr 2020, 11:44 a.m.
Panel Version: 0.2192

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Created: 12 Apr 2020, 11:44 a.m.
Last Modified: 12 Apr 2020, 11:44 a.m.
Panel version: Imported from Mendeliome panel version 0.3472

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: 0.0

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
OMIM
191845
Clinvar variants
Variants in UMOD
Penetrance
None
Panels with this gene

History Filter Activity

28 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: umod has been classified as Red List (Low Evidence).

28 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: umod has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: UMOD was added gene: UMOD was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: UMOD was set to Unknown