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Hereditary neuropathy or pain disorder v8.35 OGDH Achchuthan Shanmugasundram Classified gene: OGDH as Red List (low evidence)
Hereditary neuropathy or pain disorder v8.35 OGDH Achchuthan Shanmugasundram Gene: ogdh has been classified as Red List (Low Evidence).
Hereditary neuropathy or pain disorder v8.34 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 amber with current evidence.; to: Comment on list classification: There is one patient reported with neuropathy. Although there is functional evidence available for the reported variant from Drosophila model, only locomotion defects was reported as the phenotype in the publication, which support association with ataxia. This gene should be rated red with current evidence on the neuropathy panel.
Hereditary neuropathy or pain disorder v8.34 OGDH Achchuthan Shanmugasundram edited their review of gene: OGDH: Changed rating: RED
Hereditary neuropathy or pain disorder v8.34 OGDH Achchuthan Shanmugasundram Classified gene: OGDH as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v8.34 OGDH Achchuthan Shanmugasundram Gene: ogdh has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v8.33 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 in support of the disease association. This gene should be rated amber with current evidence.
Hereditary neuropathy or pain disorder v8.33 OGDH Achchuthan Shanmugasundram edited their review of gene: OGDH: Changed rating: AMBER
Hereditary neuropathy or pain disorder v8.30 OGDH Achchuthan Shanmugasundram Classified gene: OGDH as Red List (low evidence)
Hereditary neuropathy or pain disorder v8.30 OGDH Achchuthan Shanmugasundram Added comment: 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.
Hereditary neuropathy or pain disorder v8.30 OGDH Achchuthan Shanmugasundram Gene: ogdh has been classified as Red List (Low Evidence).
Hereditary neuropathy or pain disorder v8.29 OGDH Achchuthan Shanmugasundram Phenotypes for gene: OGDH were changed from peripheral neuropathy; cerebellar ataxia; optic neuropathy to peripheral neuropathy, MONDO:0005244; cerebellar ataxia, MONDO:0000437; hereditary optic atrophy, MONDO:0043878
Hereditary neuropathy or pain disorder v8.28 OGDH Achchuthan Shanmugasundram edited their review of gene: OGDH: Changed rating: RED
Hereditary neuropathy or pain disorder v8.28 OGDH Achchuthan Shanmugasundram reviewed gene: OGDH: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 42266417; Phenotypes: peripheral neuropathy, MONDO:0005244, cerebellar ataxia, MONDO:0000437, hereditary optic atrophy, MONDO:0043878; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy or pain disorder v8.9 OGDH Alexander Rossor gene: OGDH was added
gene: OGDH was added to Hereditary neuropathy or pain disorder. Sources: 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; cerebellar ataxia; optic neuropathy
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
Review for gene: OGDH was set to AMBER
Added comment: Only two families described so far
Sources: Expert list