Renal and urinary tract disorders
Gene: UPK3A

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

2 reviews

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.

Panel version: Imported from CAKUT panel version 0.90

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.

Panel version: Imported from CAKUT panel version 0

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

30 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Helen Stuart: Evidence conflicting for assoc

20 Dec 2018, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Renal Adysplasia for gene: UPK3A

20 Dec 2018, Gel status: 1

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