EXOSC2

exosome component 2
OMIM: 602238, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red EXOSC2 in DDG2P


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

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • DD-Gene2Phenotype
    Phenotypes
    • EXOSC2-associated short stature, hearing loss, retinitis pigmentosa, and distinctive facies syndrome
    Amber EXOSC2 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 5.4
    Latest signed off version: v5.0 (1 May 2024)

    review Not set
    Sources
    • NHS GMS
    • RetNet
    • Expert Review Amber