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Mendeliome

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

Details

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

History Filter Activity

12 Apr 2020, 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).

12 Apr 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: UPK3A were changed from to CAKUT

12 Apr 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: UPK3A were set to

12 Apr 2020, 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 Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: UPK3A was set to Unknown