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  2. Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
  3. UPK3A
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Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic

Gene: UPK3A

Red List (low evidence)
UPK3A (uroplakin 3A)
EnsemblGeneIds (GRCh38): ENSG00000100373
EnsemblGeneIds (GRCh37): ENSG00000100373
OMIM: 611559, Gene2Phenotype
UPK3A is in 2 panels

1 review

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

no mutations in gene with human CAKUT- evidence of association studies only with SNPs (PMID: 22558067)
Created: 27 Nov 2019, 11:34 p.m. | Last Modified: 27 Nov 2019, 11:34 p.m.
Panel Version: 0.0
Created: 27 Nov 2019, 11:34 p.m.
Last Modified: 27 Nov 2019, 11:34 p.m.
Panel version: 0.0

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
OMIM
611559
Clinvar variants
Variants in UPK3A
Penetrance
None
Panels with this gene

History Filter Activity

28 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: upk3a has been classified as Red List (Low Evidence).

28 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: upk3a has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: UPK3A was added gene: UPK3A was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: UPK3A was set to Unknown