Activity
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4 actions
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| DDG2P v3.12 | EEF1A2 | Achchuthan Shanmugasundram reviewed gene: EEF1A2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32196822, 23647072; Phenotypes: INFANTILE EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | EEF1A2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to EEF1A2. Mode of pathogenicity for gene EEF1A2 was changed from Other - please provide details in the comments to Other Publications for gene: EEF1A2 were updated from 23647072 to 32196822; 23647072 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | EEF1A2 | Rebecca Foulger reviewed gene: EEF1A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | EEF1A2 |
Rebecca Foulger gene: EEF1A2 was added gene: EEF1A2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: EEF1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EEF1A2 were set to 23647072 Phenotypes for gene: EEF1A2 were set to INFANTILE EPILEPTIC ENCEPHALOPATHY Mode of pathogenicity for gene: EEF1A2 was set to Other - please provide details in the comments |
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