Hereditary ataxia with onset in adulthood
Gene: PIK3R5
AOA3 but only reported in one Saudi family. On Ox but not Shef.Created: 27 Apr 2019, 7:39 p.m.
This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels -Hereditary ataxia v1.148 - Brain channelopathy v1.46. This gene was RED and external expert review from London North GLH and Wessex and West Midlands GLH for GMS Neurology specialist test group for R54 agrees this gene should remain REDCreated: 19 Jun 2019, 5:21 p.m.
Review and rating submitted byJames Polke (London North GLH), on behalf of London North GLH for GMS Neurology specialist test groupCreated: 27 Apr 2019, 8:55 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Single reported - homozygous missense variant which is clearly a poly in gnomAD dataCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia-oculomotor apraxia 3, 615217
Variants in this GENE are reported as part of current diagnostic practice
Source London North GMS was added to PIK3R5.
Added phenotypes Ataxia-oculomotor apraxia 3, 615217 for gene: PIK3R5
Source NHS GMS was added to PIK3R5.
Source Wessex and West Midlands GLH was added to PIK3R5.
Louise Daugherty: Comment on phenotypes: Implica
gene: PIK3R5 was added gene: PIK3R5 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,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