Genes in panel

Hereditary ataxia - adult onset

Gene: PI4KA

Red List (low evidence)

PI4KA (phosphatidylinositol 4-kinase alpha)
EnsemblGeneIds (GRCh38): ENSG00000241973
EnsemblGeneIds (GRCh37): ENSG00000241973
OMIM: 600286, Gene2Phenotype
PI4KA is in 11 panels

2 reviews

Louise Daugherty (Genomics England Curator)

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 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 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.

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

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 appropriate
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Polymicrogyria, perisylvian with cerebellar hypoplasia and arthrogryposis, 616531

History Filter Activity

19 Jun 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: PI4KA was changed from to BIALLELIC, autosomal or pseudoautosomal

15 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Polymicrogyria, perisylvian with cerebellar hypoplasia and arthrogryposis, 616531 for gene: PI4KA

14 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to PI4KA.

14 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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