Genomics England
GMS Panels
Panels
Genes and Entities

PI4KA

phosphatidylinositol 4-kinase alpha
OMIM: 600286
PanelMode of inheritanceDetails
2 panels
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531