1. Genes and Genomic Entities
  2. DLG3

DLG3

discs large MAGUK scaffold protein 3
OMIM: 300189, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Red DLG3 in Unexplained kidney failure in young people

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.119

Component of the following Super Panels:

  • Renal superpanel - broad

    		•  review Not set
    Sources
    • Expert list
    • Expert Review Red
    Red DLG3 in CAKUT

    Level 3: Structural renal and urinary tract disease
    Level 2: Renal and urinary tract disorders
    Version 1.176

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow

    		•  review Not set
    Sources
    • Expert Review Red
    • Expert list
    Red DLG3 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 Unknown
    Sources
    • Expert Review Red
    Red DLG3 in Fetal anomalies


    Version 3.164
    Latest signed off version: v3.0 (22 Mar 2023)

    		review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • MENTAL RETARDATION X-LINKED TYPE 90
    Green DLG3 in DDG2P


    Version 3.88
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MENTAL RETARDATION X-LINKED TYPE 90 300189
    Green DLG3 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    Phenotypes
    • Mental retardation, X-linked 90, 300850
    • MENTAL RETARDATION X-LINKED TYPE 90 (MRX90)
    Green DLG3 in Severe Paediatric Disorders


    Version 1.184

    		review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mental retardation, X-linked 90, 300850