Activity
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6 actions
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| DDG2P v6.114 | CNOT9 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: CNOT9 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | CNOT9 | Achchuthan Shanmugasundram Tag de novo tag was added to gene: CNOT9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | CNOT9 | Achchuthan Shanmugasundram edited their review of gene: CNOT9: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CNOT9-related developmental disorder with seizures are moderate, monoallelic_autosomal and loss of function (PMIDs: 30309886, 37092538). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03501.; Changed publications to: 30309886, 37092538 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | CNOT9 | Arina Puzriakova Tag gene-checked tag was added to gene: CNOT9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | CNOT9 | Achchuthan Shanmugasundram reviewed gene: CNOT9: Rating: GREEN; Mode of pathogenicity: Other; Publications: 37092538; Phenotypes: CNOT9-related developmental disorder with seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.9 | CNOT9 |
Achchuthan Shanmugasundram gene: CNOT9 was added gene: CNOT9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CNOT9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CNOT9 were set to 37092538 Phenotypes for gene: CNOT9 were set to CNOT9-related developmental disorder with seizures Mode of pathogenicity for gene: CNOT9 was set to Other |
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