Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v8.33 | FOLR1 |
Alexander Rossor gene: FOLR1 was added gene: FOLR1 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FOLR1 were set to 27743887 Phenotypes for gene: FOLR1 were set to Developmental regression; epilepsy; leukodystrophy; cerebellar atrophy; axonal neuropathy Review for gene: FOLR1 was set to AMBER Added comment: Once case associated with neuropathy. A likely cause of neuropathy as multiple other cerebral folate gene variants also causing neuropathy as part of extended phenotype. Certainly not green at this stage but no good evidence it isn't pathogenic so should not be downgraded to red Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||