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  3. UPK3A
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Unexplained young onset end-stage renal disease - additional genes

Gene: UPK3A

Red List (low evidence)
UPK3A (uroplakin 3A)
EnsemblGeneIds (GRCh38): ENSG00000100373
EnsemblGeneIds (GRCh37): ENSG00000100373
OMIM: 611559, Gene2Phenotype
UPK3A is in 3 panels

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Created: 25 Sep 2024, 9:36 p.m.
Last Modified: 25 Sep 2024, 9:36 p.m.
Panel version: 0.65

Eleanor Williams (Genomics England Curator)

I don't know

Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of Red
Created: 9 Apr 2019, 11:17 a.m.
Created: 9 Apr 2019, 11:17 a.m.

Copied from panel: Unexplained young onset end-stage renal disease v5.5

Adrian Woolf (Professor of Paediatric Scicence, Univerisity of Manchester)

Red List (low evidence)

In humans, two papers describe de novo variants in association with severe kidney dysplasia. Probably these are bona fide links however we await further reports. In mice, it is clear from published studies clear that biallelic null mutations of uroplakin 3a cause veicoureteric reflux and hydroureter and hydronephrosis.
Created: 22 Apr 2016, 11:46 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Created: 22 Apr 2016, 11:46 a.m.

Copied from panel: Unexplained young onset end-stage renal disease v5.5

Helen Stuart (University of Manchester)

Red List (low evidence)

Evidence conflicting for association.
Created: 18 Oct 2015, 9:15 p.m.
Created: 18 Oct 2015, 9:15 p.m.

Copied from panel: Unexplained young onset end-stage renal disease v5.5

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Renal Adysplasia
OMIM
611559
Clinvar variants
Variants in UPK3A
Penetrance
None
Panels with this gene

History Filter Activity

27 Sep 2024, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Added phenotypes Renal Adysplasia for gene: UPK3A

25 Sep 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: UPK3A was added gene: UPK3A was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: UPK3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: UPK3A were set to Renal Adysplasia