Activity
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| Hereditary neuropathy or pain disorder v8.24 | FAT3 | Achchuthan Shanmugasundram Classified gene: FAT3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v8.24 | FAT3 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Alexander Rossor, there is sufficient evidence available (three unrelated cases and functional evidence) for the association of FAT3 with neuropathy. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v8.24 | FAT3 | Achchuthan Shanmugasundram Gene: fat3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v8.23 | FAT3 | Achchuthan Shanmugasundram Phenotypes for gene: FAT3 were changed from axonal sensory and motor peripheral neuropathy; cranial neuropathy; scoliosis; respiratory failure; pseudoobstruction to peripheral neuropathy, MONDO:0005244 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v8.22 | FAT3 | Achchuthan Shanmugasundram Publications for gene: FAT3 were set to PMID: 41937739 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v8.21 | FAT3 |
Achchuthan Shanmugasundram Tag Q3_26_NHS_review tag was added to gene: FAT3. Tag Q3_26_promote_green tag was added to gene: FAT3. |
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| Hereditary neuropathy or pain disorder v8.21 | FAT3 | Achchuthan Shanmugasundram reviewed gene: FAT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 41937739; Phenotypes: peripheral neuropathy, MONDO:0005244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.45 | FAT3 |
Alexander Rossor gene: FAT3 was added gene: FAT3 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: FAT3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAT3 were set to PMID: 41937739 Phenotypes for gene: FAT3 were set to axonal sensory and motor peripheral neuropathy; cranial neuropathy; scoliosis; respiratory failure; pseudoobstruction Review for gene: FAT3 was set to GREEN Added comment: 3 unrelated individuals Sources: Expert list |
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