1. Genes and Genomic Entities
  2. NUP133

NUP133

nucleoporin 133
OMIM: 607613, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green NUP133 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • GALLOWAY-MOWAT SYNDROME 8, 618349
    Green NUP133 in Proteinuric renal disease


    Level 2: Renal
    Version 5.7
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • ?Galloway-Mowat syndrome 8 618349
    • Nephrotic syndrome, type 18 618177