EXOSC9

exosome component 9
OMIM: 606180, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red EXOSC9 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.161
Latest signed off version: v3.2 (13 Feb 2020)

review Not set
Sources
  • Expert Review Red

Amber EXOSC9 in DDG2P


Version 2.78
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Expert Review Amber
    • DD-Gene2Phenotype
    Phenotypes
    • Cerebellar Atrophy with Spinal Motor Neuronopathy

    Green EXOSC9 in Hereditary ataxia - adult onset


    Version 2.158
    Latest signed off version: v2.13 (6 Oct 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • Pontocerebellar hypoplasia type 1D, 618065