EXOSC8

exosome component 8
OMIM: 606019, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Amber EXOSC8 in Other rare neuromuscular disorders


Version 19.199
Latest signed off version: v19.1 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Pontocerebellar hypoplasia, type 1C 616081
Red EXOSC8 in Ataxia and cerebellar anomalies - narrow panel


Version 4.56
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review Unknown
    Sources
    • Expert Review Red
    Phenotypes
    • Pontocerebellar hypoplasia,type 1C, 616081
    Red EXOSC8 in Cerebellar hypoplasia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.73

    review Not set
    Sources
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Pontocerebellar hypoplasia,type 1C, 616081
    Amber EXOSC8 in Paediatric motor neuronopathies

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.6
    Latest signed off version: v3.3 (22 Mar 2023)

    Component of the following Super Panels:

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

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.453
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

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


    Version 4.30
    Latest signed off version: v4.0 (22 Mar 2023)

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