Activity
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4 actions
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| DDG2P v6.152 | EIF2AK1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: EIF2AK1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | EIF2AK1 | Achchuthan Shanmugasundram edited their review of gene: EIF2AK1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for EIF2AK1-related neurodevelopmental syndrome are limited, monoallelic_autosomal and undetermined (PMID:32197074). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02947.; Changed phenotypes to: EIF2AK1-associated Neurodevelopmental Syndrome, MONDO:0030036, EIF2AK1-related neurodevelopmental syndrome, OMIM:618878.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EIF2AK1 | Achchuthan Shanmugasundram reviewed gene: EIF2AK1: Rating: RED; Mode of pathogenicity: Other; Publications: 32197074; Phenotypes: EIF2AK1-associated Neurodevelopmental Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | EIF2AK1 |
Achchuthan Shanmugasundram gene: EIF2AK1 was added gene: EIF2AK1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: EIF2AK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EIF2AK1 were set to 32197074 Phenotypes for gene: EIF2AK1 were set to EIF2AK1-associated Neurodevelopmental Syndrome Mode of pathogenicity for gene: EIF2AK1 was set to Other |
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