This Panel is marked as Internal
Groopman et al 2019 - Genes with diagnostic variants
Gene: UMOD
UMOD (uromodulin)
EnsemblGeneIds (GRCh38): ENSG00000169344
EnsemblGeneIds (GRCh37): ENSG00000169344
OMIM: 191845, Gene2Phenotype
UMOD is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000169344
EnsemblGeneIds (GRCh37): ENSG00000169344
OMIM: 191845, Gene2Phenotype
UMOD is in 13 panels
1 review
Eleanor Williams (Genomics England Curator)
From Groopman et al 2019 Table S7. Gene symbol: UMOD; Inheritance AD; Clinical diagnosis: Congenital or cystic renal disease; Glomerulopathy; Hypertensive nephropathy; Nephropathy of unknown origin; Tubulointerstitial disease; Genetic diagnosis: Autosomal dominant tubulointerstitial kidney disease, UMOD-associated; OMIM phenotype MIM no.:609886,162000,603860:Number of cases: 9Created: 2 Jul 2019, 9:46 p.m. | Last Modified: 2 Jul 2019, 9:46 p.m.
Panel Version: 0.4
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert review green
- Literature
- Phenotypes
-
- Tubulointerstitial disease
- Hypertensive nephropathy
- 162000
- Congenital or cystic renal disease
- 603860
- Nephropathy of unknown origin
- Autosomal dominant tubulointerstitial kidney disease, UMOD-associated
- Glomerulopathy
- MIM 609886
- OMIM
- 191845
- Clinvar variants
- Variants in UMOD
- Penetrance
- None
- Panels with this gene
-
- CAKUT
- Unexplained kidney failure in young people
- Likely inborn error of metabolism
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
- Cystic kidney disease
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Tubulointerstitial kidney disease
- Thoracic dystrophies
- Renal tubulopathies
- Primary ciliary disorders
- Skeletal dysplasia
History Filter Activity
2 Jul 2019, Gel status: 3
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Green was added to UMOD. Rating Changed from Red List (low evidence) to Green List (high evidence)
2 Jul 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: UMOD was added gene: UMOD was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review green Mode of inheritance for gene: UMOD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: UMOD were set to Tubulointerstitial disease; Hypertensive nephropathy; 162000; Congenital or cystic renal disease; 603860; Nephropathy of unknown origin; Autosomal dominant tubulointerstitial kidney disease, UMOD-associated; Glomerulopathy; MIM 609886