Hereditary ataxia with onset in adulthood
Gene: PI4KA
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 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 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 family reported in the lit although limited functional evidence provided for the missense variant. In addition phenotype seems to include multiple other abnormalities that may make other panels more appropriateCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polymicrogyria, perisylvian with cerebellar hypoplasia and arthrogryposis, 616531
Mode of inheritance for gene: PI4KA was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Polymicrogyria, perisylvian with cerebellar hypoplasia and arthrogryposis, 616531 for gene: PI4KA
Source NHS GMS was added to PI4KA.
gene: PI4KA was added gene: PI4KA was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: PI4KA was set to