1. Genes and Genomic Entities
  2. MED13L

MED13L

mediator complex subunit 13 like
OMIM: 608771, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels
Red MED13L in COVID-19 research


Level 2: Viral research
Version 1.142

review Unknown
Sources
  • Literature
Red MED13L in Primary immunodeficiency or monogenic inflammatory bowel disease


Version 5.1
Latest signed off version: v5.0 (1 May 2024)

review Unknown
Sources
  • Literature
Phenotypes
  • primary immunodeficiency
Amber MED13L in Autism


Version 0.36

review Not set
Sources
  • Expert Review Amber
  • SFARI
Red MED13L in Familial non syndromic congenital heart disease

Level 3: Congenital heart disease
Level 2: Cardiovascular disorders
Version 1.80

review Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Transposition of the great arteries, dextro-looped 1, 608808
Green MED13L in Fetal anomalies


Version 4.1
Latest signed off version: v4.0 (1 May 2024)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Impaired intellectual development and distinctive facial features with or without cardiac defects, OMIM:616789
Red MED13L in Rare syndromic craniosynostosis or isolated multisuture synostosis

Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 5.1
Latest signed off version: v5.0 (1 May 2024)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • Impaired intellectual development and distinctive facial features with or without cardiac defects, OMIM:616789
  • craniosynostosis, MONDO:0015469
Green MED13L in DDG2P


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • INTELLECTUAL DISABILITY
    Amber MED13L in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Amber
    Phenotypes
    • Impaired intellectual development and distinctive facial features with or without cardiac defects, OMIM:616789
    • MRFACD
    • Cleft palate
    Tags
    • watchlist
    Green MED13L in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.9
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Impaired intellectual development and distinctive facial features with or without cardiac defects, OMIM:616789
    Green MED13L in Severe Paediatric Disorders


    Version 1.184

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mental retardation and distinctive facial features with or without cardiac defects, 616789
    • Transposition of the great arteries, dextro-looped 1, 608808