Hereditary ataxia with onset in adulthood
Gene: PI4KA
PI4KA (phosphatidylinositol 4-kinase alpha)
EnsemblGeneIds (GRCh38): ENSG00000241973
EnsemblGeneIds (GRCh37): ENSG00000241973
OMIM: 600286, Gene2Phenotype
PI4KA is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000241973
EnsemblGeneIds (GRCh37): ENSG00000241973
OMIM: 600286, Gene2Phenotype
PI4KA is in 13 panels
2 reviews
Louise Daugherty (Genomics England Curator)
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.
Tracy Lester (Genetics laboratory, Oxford UK)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Wessex and West Midlands GLH
- Phenotypes
-
- Polymicrogyria, perisylvian with cerebellar hypoplasia and arthrogryposis, 616531
- OMIM
- 600286
- Clinvar variants
- Variants in PI4KA
- Penetrance
- None
- Panels with this gene
-
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Cerebellar hypoplasia
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- DDG2P
- Inherited white matter disorders
- White matter disorders and cerebral calcification - narrow panel
- Ataxia and cerebellar anomalies - narrow panel
- Childhood onset hereditary spastic paraplegia
- Arthrogryposis
- Malformations of cortical development
- Infantile enterocolitis & monogenic inflammatory bowel disease
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