DLG5

discs large MAGUK scaffold protein 5
OMIM: 604090, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber DLG5 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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Amber
    Phenotypes
    • Yuksel-Vogel-Bauser syndrome, OMIM:620703
    Tags
    • Q4_23_promote_green
    Red DLG5 in DDG2P


    Version 3.87
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • DD-Gene2Phenotype
    Phenotypes
    • DLG5-associated developmental disorder (biallelic)
    • DLG5-associated developmental disorder (monoallelic)
    Green DLG5 in Renal ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 3.5
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Cystic renal disease
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Yuksel-Vogel-Bauser syndrome, OMIM:620703