Activity
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| Hereditary neuropathy or pain disorder v6.84 | SLC13A3 | Achchuthan Shanmugasundram Phenotypes for gene: SLC13A3 were changed from acute neuropathy to Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate, OMIM:618384 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.83 | SLC13A3 | Achchuthan Shanmugasundram edited their review of gene: SLC13A3: Changed phenotypes to: Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate, OMIM:618384 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.83 | SLC13A3 | Achchuthan Shanmugasundram Classified gene: SLC13A3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.83 | SLC13A3 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Alexander Rossor, there is only case reported with neuropathy. Hence, this gene should be rated red with current evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.83 | SLC13A3 | Achchuthan Shanmugasundram Gene: slc13a3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.82 | SLC13A3 | Achchuthan Shanmugasundram reviewed gene: SLC13A3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.19 | SLC13A3 |
Alexander Rossor gene: SLC13A3 was added gene: SLC13A3 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: SLC13A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC13A3 were set to 37290914 Phenotypes for gene: SLC13A3 were set to acute neuropathy Penetrance for gene: SLC13A3 were set to Complete Review for gene: SLC13A3 was set to AMBER Added comment: one patient with neuropathy in literature Sources: Expert list |
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