PanelApp (staging)
  1. Genes and Genomic Entities
  2. EXOSC2

EXOSC2

exosome component 2
OMIM: 602238, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber EXOSC2 in Mendeliome


Version 1.2302

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Short stature, hearing loss, retinitis pigmentosa, and distinctive facies, MIM# 617763

Amber EXOSC2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.63

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Short stature, hearing loss, retinitis pigmentosa, and distinctive facies, MIM# 617763

Green EXOSC2 in Syndromic Retinopathy


Level 2: Ophthalmological disorders
Version 0.219

Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • RetNet
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Short stature, hearing loss, retinitis pigmentosa, and distinctive facies, MIM# 617763