PIK3R5

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

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red PIK3R5 in Cerebellar and Pontocerebellar Hypoplasia


Level 2: Neurology and neurodevelopmental disorders
Version 1.78

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Ataxia-oculomotor apraxia 3, OMIM #615217

Red PIK3R5 in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Ataxia-oculomotor apraxia 3, OMIM #615217

Red PIK3R5 in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 0.573

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Ataxia-oculomotor apraxia 3, OMIM #615217

Red PIK3R5 in Ataxia - paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert Review Red
    • Literature
    • Victorian Clinical Genetics Services
    Phenotypes
    • Ataxia-oculomotor apraxia 3, OMIM #615217