UPK3A

uroplakin 3A
OMIM: 611559, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red UPK3A in Unexplained kidney failure in young people

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.124

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Expert Review Red
Phenotypes
  • Renal Adysplasia
Red UPK3A in CAKUT

Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 1.182

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Renal Adysplasia
Red UPK3A in Unexplained young onset end-stage renal disease - additional genes


Level 2: Renal
Version 1.6
Latest signed off version: v1.1 (30 Apr 2025)

Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    Phenotypes
    • Renal Adysplasia