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| DDG2P v6.153 | EIF2AK2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: EIF2AK2 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | EIF2AK2 | Achchuthan Shanmugasundram edited their review of gene: EIF2AK2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for EIF2AK2-related developmental delay, leukoencephalopathy, and neurologic decompensation are strong, monoallelic_autosomal and undetermined (PMID:32197074). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02948.; Changed phenotypes to: OMIM:618877.0, MONDO:0030035, EIF2AK2-associated Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation, EIF2AK2-related developmental delay, leukoencephalopathy, and neurologic decompensation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 |
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