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  2. Likely inborn error of metabolism
  3. UMOD
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Likely inborn error of metabolism

Gene: UMOD

Green List (high evidence)
UMOD (uromodulin)
EnsemblGeneIds (GRCh38): ENSG00000169344
EnsemblGeneIds (GRCh37): ENSG00000169344
OMIM: 191845, Gene2Phenotype
UMOD is in 13 panels

2 reviews

Catherine Snow (Genomics England)

Green List (high evidence)

This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.

Promoted from Amber to Green. UMOD is associated with an appropriate phenotype on OMIM but not in Gene2Phenotype. There are >3 unrelated cases listed on OMIM. Therefore, enough evidence for this gene to be promoted to Green status.
Created: 14 Oct 2019, 2:47 p.m. | Last Modified: 14 Oct 2019, 2:48 p.m.
Panel Version: 1.353

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

Phenotypes
Hyperuricemic nephropathy, familial juvenile 1, 162000

Publications

Created: 14 Oct 2019, 2:47 p.m.
Last Modified: 14 Oct 2019, 2:48 p.m.
Panel version: 1.353

Sarah Leigh (Genomics England Curator)

Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 2:04 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 2:04 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 2:03 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 2:03 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Unexplained kidney failure in young people

Created: 6 Jan 2017, 2:04 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.15

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Cystic kidney disease
  • Unexplained kidney failure in young people
  • Familial juvenile hyperuricaemic nephropathy (Disorders of purine metabolism)
OMIM
191845
Clinvar variants
Variants in UMOD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Oct 2019, Gel status: 3

Set publications

Catherine Snow (Genomics England)

Publications for gene: UMOD were set to 27604308; 31422399; 29180396

14 Oct 2019, Gel status: 3

Set publications

Catherine Snow (Genomics England)

Publications for gene: UMOD were set to 27604308

14 Oct 2019, Gel status: 3

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: umod has been classified as Green List (High Evidence).

13 Feb 2019, Gel status: 2

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to UMOD. Source London North GLH was added to UMOD.

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: UMOD was added gene: UMOD was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: UMOD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: UMOD were set to 27604308 Phenotypes for gene: UMOD were set to Cystic kidney disease; Unexplained kidney failure in young people; Familial juvenile hyperuricaemic nephropathy (Disorders of purine metabolism)