1. Genes and Genomic Entities
  2. MED13

MED13

mediator complex subunit 13
OMIM: 603808, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green MED13 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
    • MED13 - Neurodevelopment disorder
    Green MED13 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
    • NHS GMS
    • Literature
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Delayed speech and language development
    • Motor delay
    • Intellectual disability
    • Autistic behavior
    • Attention deficit hyperactivity disorder
    • Abnormality of the eye
    • Constipation