DLG5:Ensemblv90

discs large MAGUK scaffold protein 5
OMIM: 604090, ClinGen, DECIPHER

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green DLG5 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.511

1 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 1.96

1 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 0.132

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

Green DLG5 in Mendeliome


Version 1.3802

1 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 1.46

Component of the following Super Panels:

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

    Green DLG5 in Fetal anomalies


    Version 1.482

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

    Green DLG5 in Congenital Heart Defect


    Level 2: Cardiovascular disorders
    Version 1.0

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

    Green DLG5 in Ciliopathies


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.0

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

    Green DLG5 in Hydrocephalus_Ventriculomegaly


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

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

    Green DLG5 in Renal Ciliopathies and Nephronophthisis


    Level 2: Renal and urinary tract disorders
    Version 2.0

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

    Green DLG5 in Fetal anomalies


    Version 2.0

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