MED25

mediator complex subunit 25
OMIM: 610197, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Red MED25 in Corneal abnormalities

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.10

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • GDL Corneal Abnormalities panel
Phenotypes
  • Basel-Vanagait-Smirin-Yosef syndrome 616449
Tags
  • founder-effect

Red MED25 in Hereditary neuropathy

Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.442

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • South West GLH
  • Expert Review Red
  • Emory Genetics Laboratory
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Charcot Marie Tooth disease, type 2B2, 605589
  • Charcot Marie Tooth disease, type 2B2, 605589

Green MED25 in Clefting

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 3.2
Latest signed off version: v3.1 (23 Jun 2022)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Basel-Vanagait-Smirin-Yosef syndrome OMIM:616449
    Tags
    • founder-effect

    Green MED25 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.5
    Latest signed off version: v4.4 (23 Jun 2022)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Literature
    Phenotypes
    • Basel-Vanagait-Smirin-Yosef syndrome, 616449
    • BVSYS
    • Syndromic intellectual disability
    • Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
    Tags
    • founder-effect

    Red MED25 in Hereditary neuropathy NOT PMP22 copy number


    Version 2.2
    Latest signed off version: v2.1 (23 Jun 2022)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Radboud University Medical Center, Nijmegen
    • South West GLH
    • Expert Review Red
    • UKGTN
    • Emory Genetics Laboratory
    • Expert list
    • Illumina TruGenome Clinical Sequencing Services
    • NHS GMS
    • NHS GMS
    • South West GLH
    Phenotypes
    • Charcot Marie Tooth disease, type 2B2, 605589