Primary ciliary disorders
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
2 reviews
Ian Berry (Leeds Genetics Laboratory)
Gene should be deleted - causes a primary ciliopathy;PCD is a motile ciliopathy, likely unrelated at a functional level.Created: 8 Dec 2015, 5:33 p.m.
Phenotypes
ciliopathies
Hannah Mitchison (UCL and GOSH)
This is a ciliopathy but not a Primary Ciliary Disorder gene and should be removed from the panelCreated: 8 Dec 2015, 4:25 p.m.
Phenotypes
ciliopathies
Details
- Sources
-
- Emory Genetics Laboratory
- Phenotypes
-
- ciliopathies
- OMIM
- 191845
- Clinvar variants
- Variants in UMOD
- Penetrance
- Complete
- Panels with this gene
-
- Skeletal dysplasia
- Undiagnosed metabolic disorders
- Thoracic dystrophies
- 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
16 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)UMOD was added to Primary ciliary disorderspanel. Sources: Emory Genetics Laboratory