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 3.22
Latest signed off version: v3.16 (6 May 2026)

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 3.16
    Latest signed off version: v3.15 (6 May 2026)

    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 7.3
    Latest signed off version: v7.0 (6 May 2026)

    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 10.17
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

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