Research panel - Severe Paediatric Disorders
Gene: UMOD

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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: UMOD; Recommended initial gene rating: Green List (high evidence); Phenotypes: Glomerulocystic kidney disease with hyperuricemia and isosthenuria, 609886 (3) | Hyperuricemic nephropathy, familial juvenile 1, 162000 (3) | Medullary cystic kidney disease 2, 603860 (3); Mode of inheritance: ND | Autosomal dominant | ND
Created: 20 Feb 2020, 5:27 p.m. | Last Modified: 20 Feb 2020, 5:27 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:27 p.m.
Last Modified: 20 Feb 2020, 5:27 p.m.
Panel version: 0.12

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

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

OMIM

191845

Clinvar variants

Variants in UMOD

Penetrance

None

Publications

30847515

Panels with this gene