1. Genes and Genomic Entities
  2. EXOSC2

EXOSC2

exosome component 2
OMIM: 602238, Gene2Phenotype

2 panels

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


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

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 2: Ophthalmology
    Version 8.86
    Latest signed off version: v8.0 (30 Apr 2025)

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