CAKUT
Gene: UMODEnsemblGeneIds (GRCh38): ENSG00000169344
EnsemblGeneIds (GRCh37): ENSG00000169344
OMIM: 191845, Gene2Phenotype
UMOD is in 13 panels
3 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Not CAKUT associated.Created: 25 Apr 2016, 1:05 p.m.
Comment on list classification: Demoted from green due to comment from a second reviewer.Created: 22 Apr 2016, 12:30 p.m.
Adrian Woolf (Professor of Paediatric Scicence, Univerisity of Manchester)
In humans UMOD mutations are generally associated with medullary cystic kidneys. In the late stage of disease these may appear small and contain cysts but these are more correctly thought of as acquired problems rather than being present at birth.Created: 22 Apr 2016, 11:52 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Helen Stuart (University of Manchester)
Phenotype is associated with missense mutations/in-frame insert/deletion predicted to cause protein miss-folding.
This gene is not associated with CAKUT pe se - typically cysts are late feature.Created: 16 Oct 2015, 3:16 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Medullary cystic kidney disease type 2; Glomerulocystic kidney disease with hyperuricemia; Juvenile Hyperuricemic nephropathy
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Uromodulin-associated kidney disease
- Medullary Cystic Kidney Disease 2
- Hyperuricemic nephropathy, familial juvenile 1, 162000
- OMIM
- 191845
- Clinvar variants
- Variants in UMOD
- Penetrance
- Complete
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
- CAKUT
- Likely inborn error of metabolism
- Renal ciliopathies
- Tubulointerstitial kidney disease
- Unexplained kidney failure in young people
- Cystic kidney disease
- Renal tubulopathies
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for UMOD was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene UMOD was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene UMOD was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene UMOD was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene UMOD was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene UMOD was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene UMOD was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
GEL ()UMOD was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()UMOD was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: Emory Genetics Laboratory
Added New Source
GEL ()UMOD was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: Illumina TruGenome Clinical Sequencing Services