Activity
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| Hereditary ataxia with onset in adulthood v9.3 | OGDH | Achchuthan Shanmugasundram Classified gene: OGDH as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v9.3 | OGDH |
Achchuthan Shanmugasundram Added comment: Comment on list classification: There are two unrelated cases reported with monoallelic OGDH variants and with cerebellar ataxia. There is also some functional evidence available from Drosophila showing a role for reported variants in late-onset locomotion defects. Hence, this gene can be rated amber with 'watchlist' tag added to review gene rating in light of any new evidence. |
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| Hereditary ataxia with onset in adulthood v9.3 | OGDH | Achchuthan Shanmugasundram Gene: ogdh has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v9.2 | OGDH | Achchuthan Shanmugasundram Tag watchlist tag was added to gene: OGDH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v9.2 | OGDH | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v9.2 | OGDH | Achchuthan Shanmugasundram edited their review of gene: OGDH: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v9.2 | OGDH | Achchuthan Shanmugasundram Entity copied from Hereditary neuropathy or pain disorder v8.30 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v9.2 | OGDH |
Achchuthan Shanmugasundram gene: OGDH was added gene: OGDH was added to Hereditary ataxia with onset in adulthood. Sources: Expert Review Red,Expert list Mode of inheritance for gene: OGDH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: OGDH were set to 42266417 Phenotypes for gene: OGDH were set to peripheral neuropathy, MONDO:0005244; cerebellar ataxia, MONDO:0000437; hereditary optic atrophy, MONDO:0043878 Mode of pathogenicity for gene: OGDH was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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