Cerebellar hypoplasia

Gene: PI4KA

Red List (low evidence)

PI4KA (phosphatidylinositol 4-kinase alpha)
EnsemblGeneIds (GRCh38): ENSG00000241973
EnsemblGeneIds (GRCh37): ENSG00000241973
OMIM: 600286, Gene2Phenotype
PI4KA is in 5 panels

1 review

Alice Gardham (Genomics England)

I don't know

3 affected foetuses in one family only. Not in G2P
Created: 14 Nov 2016, 2:39 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis , 616531

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis , 616531
OMIM
600286
Clinvar variants
Variants in PI4KA
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Feb 2017, Gel status: 0

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

22/02/2017: Panel revised after internal clinical review and further curation.

14 Nov 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

PI4KA was created by agardham

14 Nov 2016, Gel status: 0

Added New Source

Alice Gardham (Genomics England)

PI4KA was added to Cerebellar hypoplasiapanel. Sources: Literature