1. Genes and Genomic Entities
  2. DLG5

DLG5

discs large MAGUK scaffold protein 5
OMIM: 604090, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green DLG5 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Yuksel-Vogel-Bauser syndrome, OMIM:620703
Red DLG5 in DDG2P


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

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 2: Renal
    Version 4.7
    Latest signed off version: v4.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Cystic renal disease
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • Unexplained young onset end-stage renal disease

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Yuksel-Vogel-Bauser syndrome, OMIM:620703
    Tags
    • Q2_25_ MOI
    • Q2_25_ NHS_review