Genomics England
GMS Panels
Panels
Genes and Entities

EIF2AK2

eukaryotic translation initiation factor 2 alpha kinase 2
OMIM: 176871
PanelMode of inheritanceDetails
2 panels
Green
in Childhood onset dystonia or chorea or related movement disorder
R-numbers: R57
Signed-off version 2.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, 618877
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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, OMIM:618877