DLG5

discs large MAGUK scaffold protein 5
OMIM: 604090, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green DLG5 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.430

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Yuksel-Vogel-Bauer syndrome, MIM#620703

Green DLG5 in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.62

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Yuksel-Vogel-Bauer syndrome, MIM#620703

Green DLG5 in Hydrocephalus_Ventriculomegaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.127

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Yuksel-Vogel-Bauer syndrome, MIM#620703

Green DLG5 in Mendeliome


Version 1.2302

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Yuksel-Vogel-Bauer syndrome, MIM#620703

Green DLG5 in Renal Ciliopathies and Nephronophthisis


Level 2: Renal and urinary tract disorders
Version 1.26

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Cystic Disease_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Yuksel-Vogel-Bauer syndrome, MIM#620703

    Green DLG5 in Fetal anomalies


    Version 1.313

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Yuksel-Vogel-Bauer syndrome, MIM#620703