PIK3R5:Ensemblv90

phosphoinositide-3-kinase regulatory subunit 5
OMIM: 611317, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Red PIK3R5 in Cerebellar and Pontocerebellar Hypoplasia


Level 2: Neurology and neurodevelopmental disorders
Version 1.92

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

Red PIK3R5 in Mendeliome


Version 1.3802

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

Red PIK3R5 in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 0.601

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Ataxia-oculomotor apraxia 3, OMIM #615217
Tags
  • disputed

Red PIK3R5 in Ataxia


Level 2: Neurology and neurodevelopmental disorders
Version 1.162

Component of the following Super Panels:

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

    Red PIK3R5 in Cerebellar and Pontocerebellar Hypoplasia


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

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