1. Genes and Genomic Entities
  2. PIK3R5

PIK3R5

phosphoinositide-3-kinase regulatory subunit 5
OMIM: 611317, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red PIK3R5 in Ataxia and cerebellar anomalies - childhood onset


Level 2: Neurology
Version 9.30
Latest signed off version: v9.22 (12 Aug 2026)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies, childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • Ataxia-oculomotor apraxia 3
    Red PIK3R5 in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.345

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Ataxia-oculomotor apraxia 3
    Red PIK3R5 in Neurodegenerative disorders, adult onset


    Level 2: Neurology
    Version 9.7
    Latest signed off version: v9.4 (12 Aug 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • Ataxia-oculomotor apraxia 3
    Red PIK3R5 in Hereditary ataxia, adult onset


    Level 2: Neurology
    Version 9.10
    Latest signed off version: v9.4 (12 Aug 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Red
    • Hereditary ataxia v1.148
    Phenotypes
    • Ataxia-oculomotor apraxia 3, 615217
    • Ataxia-oculomotor apraxia 3