1. Genes and Genomic Entities
  2. MED16

MED16

mediator complex subunit 16
OMIM: 604062, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber MED16 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Guillouet-Gordon syndrome, OMIM:621220
    Tags
    • Q3_25_promote_green
    Amber MED16 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Guillouet-Gordon syndrome, OMIM:621220
    Tags
    • Q3_25_promote_green
    • Q3_25_NHS_review