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  2. Tubulointerstitial kidney disease
  3. UMOD
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Tubulointerstitial kidney disease

Gene: UMOD

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

1 review

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Emma Ashton (NE Thames Regional Genetics laboratory, GOSH NHS Foundation Trust) January 2019 on behalf of the GMS Renal Specialist Test Group.Gene Symbol submitted:UMOD;Suggested initial gene rating: Green;Evidence for inclusion: Mainly missense variants, few LoF;Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided
Created: 2 Feb 2019, 12:48 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Medullary cystic kidney disease 2 MIM 603860; Familial juvenile hyperuricemic nephropathy 1 MIM 162000

Publications

Mode of pathogenicity
Other - please provide details in the comments

Created: 2 Feb 2019, 12:48 a.m.

Panel version: 0.3

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Medullary cystic kidney disease 2 MIM 603860
  • Familial juvenile hyperuricemic nephropathy 1 MIM 162000
OMIM
191845
Clinvar variants
Variants in UMOD
Penetrance
None
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

2 Feb 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: UMOD was added gene: UMOD was added to Tubulointerstitial kidney disease. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: UMOD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: UMOD were set to 12471200; 14569098 Phenotypes for gene: UMOD were set to Medullary cystic kidney disease 2 MIM 603860; Familial juvenile hyperuricemic nephropathy 1 MIM 162000 Mode of pathogenicity for gene: UMOD was set to Other - please provide details in the comments