Unexplained young onset end-stage renal disease - additional genes
Gene: UPK2
UPK2 (uroplakin 2)
EnsemblGeneIds (GRCh38): ENSG00000110375
EnsemblGeneIds (GRCh37): ENSG00000110375
OMIM: 611558, Gene2Phenotype
UPK2 is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000110375
EnsemblGeneIds (GRCh37): ENSG00000110375
OMIM: 611558, Gene2Phenotype
UPK2 is in 3 panels
4 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
This gene has been added to this panel with red rating as it was present in R257 Unexplained young onset end-stage renal disease panel (v5.1) with the same rating before it was made a super panel.Created: 25 Sep 2024, 9:36 p.m. | Last Modified: 25 Sep 2024, 9:36 p.m.
Panel Version: 0.65
Mode of inheritance
Other
Eleanor Williams (Genomics England Curator)
Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of RedCreated: 9 Apr 2019, 11:17 a.m.
Helen Stuart (University of Manchester)
Adrian Woolf (Professor of Paediatric Scicence, Univerisity of Manchester)
In mice, biallelic null mutations cause ureter malformations. However, in humans, the current evidence implicating this gene in renal tract malformations is weak.Created: 22 Apr 2016, 11:47 a.m.
Mode of inheritance
Other
Details
- Mode of Inheritance
- Other
- Sources
-
- Expert Review Red
- OMIM
- 611558
- Clinvar variants
- Variants in UPK2
- Penetrance
- None
- Panels with this gene
History Filter Activity
25 Sep 2024, Gel status: 1
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: UPK2 was added gene: UPK2 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: UPK2 was set to Other