Genes in panel

Ataxia and cerebellar anomalies - narrow panel

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

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Ataxia-oculomotor apraxia 3
OMIM
611317
Clinvar variants
Variants in PIK3R5
Penetrance
None
Panels with this gene

History Filter Activity

9 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Comment on list classification

19 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: PIK3R5 was added gene: PIK3R5 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: PIK3R5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PIK3R5 were set to Ataxia-oculomotor apraxia 3