1. Genes and Genomic Entities
  2. DLG1

DLG1

discs large MAGUK scaffold protein 1
OMIM: 601014, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red DLG1 in Short QT syndrome


Level 2: Cardiology
Version 3.16
Latest signed off version: v3.14 (30 Apr 2025)

Component of the following Super Panels:

  • Cardiac arrhythmias
  • Sudden unexplained death or survivors of a cardiac event
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review Not set
    Sources
    • Brugada syndrome (Version 1.7)
    Red DLG1 in Brugada syndrome and cardiac sodium channel disease


    Level 2: Cardiology
    Version 3.14
    Latest signed off version: v3.12 (30 Apr 2025)

    Component of the following Super Panels:

  • Cardiac arrhythmias
  • Sudden unexplained death or survivors of a cardiac event
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review Unknown
    Sources
    • Expert Review Red
    • South West GLH
    • Oxford Medical Genetics Laboratory
    Phenotypes
    • Brugada syndrome, MONDO:0015263
    Red DLG1 in Clefting


    Level 2: Musculoskeletal
    Version 6.20
    Latest signed off version: v6.5 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review Unknown
    Sources
    • Literature
    Phenotypes
    • Non-syndromic cleft lip with or without cleft palate
    Amber DLG1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review Not set
    Sources
    • Expert Review Amber
    Tags
    • watchlist
    • microdeletion
    • microduplication