1. Panels
  2. Hereditary ataxia
  3. PIK3R5

Hereditary ataxia

Gene: PIK3R5

Red List (low evidence)
PIK3R5 (phosphoinositide-3-kinase regulatory subunit 5)
EnsemblGeneIds (GRCh38): ENSG00000141506
EnsemblGeneIds (GRCh37): ENSG00000141506
OMIM: 611317, Gene2Phenotype
PIK3R5 is in 4 panels

2 reviews

emma baple (Genomics England Curator)

Comment when marking as ready: Only one family reported
Created: 3 Jun 2016, 12:03 p.m.
Created: 3 Jun 2016, 12:03 p.m.

Panel version: 0.65

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

Red List (low evidence)

Still only a single family that I am aware of
Created: 24 Nov 2015, 4:57 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ataxia-oculomotor apraxia 3

Variants in this GENE are reported as part of current diagnostic practice

Created: 24 Nov 2015, 4:57 p.m.

Panel version: 0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ataxia-oculomotor apraxia 3
OMIM
611317
Clinvar variants
Variants in PIK3R5
Penetrance
Complete
Panels with this gene

History Filter Activity

3 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

3 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

6 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PIK3R5 was changed to BIALLELIC, autosomal or pseudoautosomal

6 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

PIK3R5 was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN

6 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PIK3R5 was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN