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| Optic neuropathy v6.51 | OGDH | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There is one patient and functional evidence from Drosophila models available in support of the disease association. This gene should be rated red with current evidence.; to: Comment on list classification: There is one patient and functional evidence from Drosophila models available. But, the evidence from drosophila model only supports locomotion defects and not any eye phenotypes. Hence, this gene should be rated red with current evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v6.44 | OGDH | Achchuthan Shanmugasundram Entity copied from Hereditary neuropathy or pain disorder v8.30 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v6.44 | OGDH |
Achchuthan Shanmugasundram gene: OGDH was added gene: OGDH was added to Optic neuropathy. 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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