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 1.119

Component of the following Super Panels:

  • Renal superpanel - broad
  • 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 1.176

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • 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


    Version 3.41
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    Phenotypes
    • Renal Adysplasia