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EIF2AK2

eukaryotic translation initiation factor 2 alpha kinase 2
OMIM: 176871, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green EIF2AK2 in Inherited white matter disorders Level 3: White matter disorders Level 2: Neurology and neurodevelopmental disorders Version 1.186	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, 618877 Tags missense
Green EIF2AK2 in DDG2P Version 8.1 Latest signed off version: v8.0 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EIF2AK2-associated Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation
Amber EIF2AK2 in Early onset or syndromic epilepsy Level 2: Neurology Version 9.57 Latest signed off version: v9.56 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, 618877
Green EIF2AK2 in Intellectual disability Level 2: Developmental disorders Version 11.1 Latest signed off version: v11.0 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, OMIM:618877 Tags missense
Green EIF2AK2 in Dystonia, chorea or related movement disorder, childhood onset Level 2: Neurology Version 8.14 Latest signed off version: v8.13 (12 Aug 2026)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, 618877 Tags missense