Genomics England
GMS Panels
Panels
Genes and Entities

EIF2AK2

eukaryotic translation initiation factor 2 alpha kinase 2
OMIM: 176871
PanelMode of inheritanceDetails
3 panels
Green
in Childhood onset dystonia, chorea or related movement disorder
R-numbers: R57
Signed-off version 4.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, 618877
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
EIF2AK2-associated Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, OMIM:618877