EXOSC8

Red EXOSC8 in Ataxia and cerebellar anomalies - narrow panel

Version 5.3
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

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

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 3.7
Latest signed off version: v3.6 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Amber
• UKGTN
• Literature

Phenotypes

• Pontocerebellar hypoplasia, type 1C, OMIM:616081
• neuronopathy, distal hereditary motor, MONDO:0000075

Amber EXOSC8 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.11
Latest signed off version: v6.0 (1 May 2024)

Component of the following Super Panels:

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 5.3
Latest signed off version: v5.0 (1 May 2024)

Sources

• Expert Review Green
• NHS GMS
• Wessex and West Midlands GLH

Phenotypes

• Pontocerebellar hypoplasia type 1C