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  3. UMOD
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Renal Tubulointerstitial Disease

Gene: UMOD

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, over 100 families reported.
Created: 16 Jan 2021, 11:30 a.m. | Last Modified: 16 Jan 2021, 11:30 a.m.
Panel Version: 0.26

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Autosomal Dominant Tubulointerstitial disease (ADTKD-UMOD); Glomerulocystic kidney disease with hyperuricemia and isosthenuria 609886; Medullary cystic kidney disease 2, MIM# 603860

Publications

Created: 16 Jan 2021, 11:30 a.m.
Last Modified: 16 Jan 2021, 11:30 a.m.
Panel version: 0.26

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_Tubulointerstitial v38.1.0
Phenotypes
  • Autosomal Dominant Tubulointerstitial disease (ADTKD-UMOD)
  • Glomerulocystic kidney disease with hyperuricemia and isosthenuria 609886
  • Medullary cystic kidney disease 2, MIM# 603860
OMIM
191845
Clinvar variants
Variants in UMOD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

16 Jan 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: UMOD were changed from to Autosomal Dominant Tubulointerstitial disease (ADTKD-UMOD); Glomerulocystic kidney disease with hyperuricemia and isosthenuria 609886; Medullary cystic kidney disease 2, MIM# 603860

16 Jan 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: UMOD were set to

16 Jan 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: UMOD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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 Renal tubulointerstitial disease_KidGen. Sources: KidGen_Tubulointerstitial v38.1.0,Expert Review Green Mode of inheritance for gene: UMOD was set to Unknown