1. Genes and Genomic Entities
  2. EXOSC9

EXOSC9

exosome component 9
OMIM: 606180, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red EXOSC9 in Arthrogryposis


Level 2: Neurology
Version 9.31
Latest signed off version: v9.0 (30 Apr 2025)

review Not set
Sources
  • Expert Review Red
Green EXOSC9 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.181
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Pontocerebellar hypoplasia, type 1D, OMIM:618065
Green EXOSC9 in DDG2P


Version 6.447
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 Green
    • DD-Gene2Phenotype
    Phenotypes
    • Cerebellar Atrophy with Spinal Motor Neuronopathy
    Green EXOSC9 in Hereditary ataxia with onset in adulthood


    Level 2: Neurology
    Version 8.30
    Latest signed off version: v8.0 (30 Apr 2025)

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