Renal ciliopathies
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
Alice Gardham (Genomics England)
Comment on list classification: Incorrect phenotypeCreated: 25 Jan 2017, 11:41 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Expert list
- Emory Genetics Laboratory
- UKGTN
- Phenotypes
-
- Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel
- OMIM
- 191845
- Clinvar variants
- Variants in UMOD
- Penetrance
- None
- 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
10 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 Renal ciliopathies. Sources: UKGTN,Emory Genetics Laboratory,Expert list,Expert Review Red Mode of inheritance for gene: UMOD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: UMOD were set to Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel