DLG4

discs large MAGUK scaffold protein 4
OMIM: 602887, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green DLG4 in Ataxia and cerebellar anomalies - narrow panel


Level 2: Neurology
Version 8.63
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Intellectual developmental disorder, autosomal dominant 62, OMIM:618793
    Amber DLG4 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Amber
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Intellectual developmental disorder, autosomal dominant 62, OMIM:618793
    Green DLG4 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • DLG4 related intellectual disability
    Green DLG4 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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    Phenotypes
    • Intellectual disability
    • Marfanoid habitus
    • Intellectual developmental disorder 62 #618793
    Tags
    • microduplication