Ciliopathies
Gene: UMODEnsemblGeneIds (GRCh38): ENSG00000169344
EnsemblGeneIds (GRCh37): ENSG00000169344
OMIM: 191845, Gene2Phenotype
UMOD is in 9 panels
1 review
Crystle Lee (Victorian Clinical Genetics Services)
Expressed on renal primary cilia and well reported to cause cystic kidney diseaseCreated: 19 May 2020, 11:42 p.m. | Last Modified: 19 May 2020, 11:42 p.m.
Panel Version: 0.161
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Glomerulocystic kidney disease with hyperuricemia and isosthenuria (MIM#609886); Hyperuricemic nephropathy, familial juvenile 1 (MIM#162000); Medullary cystic kidney disease 2 (MIM#603860)
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Glomerulocystic kidney disease with hyperuricemia and isosthenuria (MIM#609886)
- Hyperuricemic nephropathy, familial juvenile 1 (MIM#162000)
- Medullary cystic kidney disease 2 (MIM#603860)
- OMIM
- 191845
- Clinvar variants
- Variants in UMOD
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: umod has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: UMOD were changed from to Glomerulocystic kidney disease with hyperuricemia and isosthenuria (MIM#609886); Hyperuricemic nephropathy, familial juvenile 1 (MIM#162000); Medullary cystic kidney disease 2 (MIM#603860)
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: UMOD were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: UMOD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: UMOD was added gene: UMOD was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: UMOD was set to Unknown