EXOSC8

exosome component 8
OMIM: 606019, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Green EXOSC8 in Ataxia and cerebellar anomalies - narrow panel


Level 2: Neurology
Version 9.3
Latest signed off version: v9.0 (6 May 2026)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Pontocerebellar hypoplasia, type 1C, OMIM:616081
    Green EXOSC8 in Cerebellar hypoplasia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.87

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Pontocerebellar hypoplasia, type 1C, OMIM:616081
    Green EXOSC8 in Childhood onset hereditary spastic paraplegia


    Level 2: Neurology
    Version 9.2
    Latest signed off version: v9.0 (6 May 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Pontocerebellar hypoplasia, type 1C, OMIM:616081
    Green EXOSC8 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 7.10
    Latest signed off version: v7.0 (6 May 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Pontocerebellar hypoplasia, type 1C, OMIM:616081
    Amber EXOSC8 in Paediatric motor neuronopathies


    Level 2: Neurology
    Version 3.16
    Latest signed off version: v3.13 (6 May 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    • UKGTN
    Phenotypes
    • Pontocerebellar hypoplasia, type 1C, OMIM:616081
    • neuronopathy, distal hereditary motor, MONDO:0000075
    Green EXOSC8 in DDG2P


    Version 7.1
    Latest signed off version: v7.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • EXOSC8-related pontocerebellar hypoplasia, OMIM:616081
    Green EXOSC8 in Intellectual disability


    Level 2: Developmental disorders
    Version 10.18
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • Pontocerebellar hypoplasia, type 1C, OMIM:616081
    Tags
    • founder-effect
    Red EXOSC8 in Hereditary ataxia with onset in adulthood


    Level 2: Neurology
    Version 9.1
    Latest signed off version: v9.0 (6 May 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • Pontocerebellar hypoplasia, type 1C, OMIM:616081