NUP133

nucleoporin 133
OMIM: 607613, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red NUP133 in Autism


Version 0.22

review Not set
Sources
  • Expert Review Red
  • SFARI

Green NUP133 in Unexplained paediatric onset end-stage renal disease


Version 1.37
Latest signed off version: v1.2 (4 Mar 2020)

Component of the following Super Panels:

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

    Amber NUP133 in DDG2P


    Version 2.78
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • DD-Gene2Phenotype
    Phenotypes
    • GALLOWAY-MOWAT SYNDROME 8, 618349

    Green NUP133 in Proteinuric renal disease

    Level 3: Syndromes with prominent renal abnormalities
    Level 2: Renal and urinary tract disorders
    Version 2.77
    Latest signed off version: v2.32 (16 Oct 2020)

    Component of the following Super Panels:

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