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  2. CAKUT
  3. UPK3A
STRs in panel
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CAKUT

Gene: UPK3A

Red List (low evidence)
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: 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: 0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Renal Adysplasia
OMIM
611559
Clinvar variants
Variants in UPK3A
Penetrance
Complete
Panels with this gene

History Filter Activity

22 Apr 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

14 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene UPK3A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

14 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

UPK3A was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list

14 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

UPK3A was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list