Hereditary ataxia with onset in adulthood

Gene: PIK3R5

Red List (low evidence)

AOA3 but only reported in one Saudi family. On Ox but not Shef.

Created: 27 Apr 2019, 7:39 p.m.

Red List (low evidence)

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 RED

Created: 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 group

Created: 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.

Red List (low evidence)

Single reported - homozygous missense variant which is clearly a poly in gnomAD data

Created: 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