Activity
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7 actions
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| DDG2P v6.278 | OGDH | Achchuthan Shanmugasundram Mode of pathogenicity for gene: OGDH was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | OGDH | Achchuthan Shanmugasundram edited their review of gene: OGDH: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for OGDH-related neurodevelopmental disorder are moderate, biallelic_autosomal and undetermined (PMIDs: 32383294, 36520152). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03200.; Changed publications to: 32383294, 36520152; Changed phenotypes to: MONDO:0008759, OGDH-related neurodevelopmental disorder, OMIM:203740.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.14 | OGDHL | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: OGDHL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | OGDHL | Achchuthan Shanmugasundram reviewed gene: OGDHL: Rating: GREEN; Mode of pathogenicity: ; Publications: 34800363; Phenotypes: OGDHL-related neurodevelopmental disorder with seizures, hearing loss and gait ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | OGDH | Achchuthan Shanmugasundram reviewed gene: OGDH: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36520152, 32383294; Phenotypes: OGDH-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | OGDHL |
Achchuthan Shanmugasundram gene: OGDHL was added gene: OGDHL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: OGDHL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OGDHL were set to 34800363 Phenotypes for gene: OGDHL were set to OGDHL-related neurodevelopmental disorder with seizures, hearing loss and gait ataxia |
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| DDG2P v3.11 | OGDH |
Achchuthan Shanmugasundram gene: OGDH was added gene: OGDH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: OGDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OGDH were set to 36520152; 32383294 Phenotypes for gene: OGDH were set to OGDH-related neurodevelopmental disorder Mode of pathogenicity for gene: OGDH was set to Other |
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