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DDG2P v3.12 EIF2AK2 Achchuthan Shanmugasundram reviewed gene: EIF2AK2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32197074; Phenotypes: EIF2AK2-associated Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.11 EIF2AK2 Achchuthan Shanmugasundram gene: EIF2AK2 was added
gene: EIF2AK2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EIF2AK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EIF2AK2 were set to 32197074
Phenotypes for gene: EIF2AK2 were set to EIF2AK2-associated Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation
Mode of pathogenicity for gene: EIF2AK2 was set to Other