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  3. UMOD
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Unexplained kidney failure in young people

Gene: UMOD

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

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Numerous variants reported in Hyperuricemic nephropathy, familial juvenile 1 162000 and one each in Glomerulocystic kidney disease with hyperuricemia and isosthenuria 609886 and Medullary cystic kidney disease 2 603860
Created: 5 Aug 2016, 12:51 p.m.
Created: 5 Aug 2016, 12:51 p.m.

Panel version: 0.276

Ellen McDonagh (Genomics England Curator)

Phenotypes and mode of inheritance sourced from OMIM.
Created: 11 Jan 2016, 11:53 a.m.
Created: 11 Jan 2016, 11:53 a.m.

Panel version: 0.1

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Other
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Eligibility statement prior genetic testing
  • UKGTN
  • Expert Review
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Glomerulocystic kidney disease with hyperuricemia and isosthenuria 609886
  • Hyperuricemic nephropathy, familial juvenile 1 162000
  • Medullary cystic kidney disease 2 603860
OMIM
191845
Clinvar variants
Variants in UMOD
Penetrance
Complete
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: UMOD were changed from Glomerulocystic kidney disease with hyperuricemia and isosthenuria 609886; Hyperuricemic nephropathy, familial juvenile 1 162000; Medullary cystic kidney disease 2 603860 to Glomerulocystic kidney disease with hyperuricemia and isosthenuria 609886; Hyperuricemic nephropathy, familial juvenile 1 162000; Medullary cystic kidney disease 2 603860

17 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 17th August 2016

5 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

5 Aug 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

5 Aug 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

UMOD was added to Unexplained kidney failure in young peoplepanel. Sources: Emory Genetics Laboratory

20 Jun 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for UMOD were set to Hyperuricemic nephropathy, familial juvenile 1 162000

20 Jun 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

UMOD was added to Unexplained kidney failure in young peoplepanel. Sources: Other,Eligibility statement prior genetic testing,UKGTN,Radboud University Medical Center, Nijmegen,Expert list,Expert Review,Illumina TruGenome Clinical Sequencing Services

20 Jun 2016, Gel status: 4

clearsources

Sarah Leigh (Genomics England Curator)

UMODAll sources for gene: UMOD were removed

18 May 2016, Gel status: 4

Set Mode of Inheritance, Added New Source

Sarah Leigh (Genomics England Curator)

UMOD was added to Unexplained kidney failure in young peoplepanel. Source: Illumina TruGenome Clinical Sequencing Services UMOD was added to Unexplained kidney failure in young peoplepanel. Source: Expert Review Red Model of inheritance for gene UMOD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

16 May 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

UMOD was added to Unexplained kidney failure in young peoplepanel. Source: Emory Genetics Laboratory UMOD was added to Unexplained kidney failure in young peoplepanel. Source: Expert UMOD was added to Unexplained kidney failure in young peoplepanel. Source: Expert Review Green

12 May 2016, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

UMOD was added to Unexplained kidney failure in young peoplepanel. Source: Illumina TruGenome Clinical Sequencing Services

12 May 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

UMOD was added to Unexplained kidney failure in young peoplepanel. Source: UKGTN

12 May 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

UMOD was added to Unexplained kidney failure in young peoplepanel. Source: Radboud University Medical Center, Nijmegen

11 Jan 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene UMOD were set to Hyperuricemic nephropathy, familial juvenile 1 (AD); Medullary cystic kidney disease 2; Glomerulocystic kidney disease with hyperuricemia and isosthenuria; personal or family history of gout under age of 30 in the absence of CKD stage 3, 4 or 5

11 Jan 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

UMOD was created by ellenmcdonagh

11 Jan 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

UMOD was added to Unexplained kidney failure in young peoplepanel. Sources: Eligibility statement prior genetic testing,Other