MED13L

mediator complex subunit 13 like
OMIM: 608771, Gene2Phenotype

8 panels

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


Level 2: Viral research
Version 1.146

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


Level 2: Immunology
Version 8.78
Latest signed off version: v8.0 (30 Apr 2025)

review Unknown
Sources
  • Literature
Phenotypes
  • primary immunodeficiency
Red MED13L in Familial non syndromic congenital heart disease

Level 3: Congenital heart disease
Level 2: Cardiovascular disorders
Version 1.90

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


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

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 2: Musculoskeletal
Version 6.3
Latest signed off version: v6.0 (30 Apr 2025)

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 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
    • INTELLECTUAL DISABILITY
    Amber MED13L 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 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 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, 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