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  2. CAKUT
  3. UPK2
STRs in panel
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CAKUT

Gene: UPK2

Red List (low evidence)
UPK2 (uroplakin 2)
EnsemblGeneIds (GRCh38): ENSG00000110375
EnsemblGeneIds (GRCh37): ENSG00000110375
OMIM: 611558, Gene2Phenotype
UPK2 is in 3 panels

2 reviews

Helen Stuart (University of Manchester)

Red List (low evidence)

Created: 5 Nov 2017, 2:37 a.m.

Panel version: 0

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

Red List (low evidence)

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

Created: 22 Apr 2016, 11:47 a.m.

Panel version: 0.91

Details

Mode of Inheritance
Other - please specifiy in evaluation comments
Sources
  • Expert Review Red
  • Expert list
OMIM
611558
Clinvar variants
Variants in UPK2
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).

22 Apr 2016, Gel status: 0

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for UPK2 was changed to Other - please specifiy in evaluation comments

14 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

UPK2 was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: Expert list