Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.134 | MT-ND6 | Achchuthan Shanmugasundram Classified gene: MT-ND6 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.134 | MT-ND6 | Achchuthan Shanmugasundram Gene: mt-nd6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.133 | MT-ND6 | Achchuthan Shanmugasundram Publications for gene: MT-ND6 were set to PMID: 20301353 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.132 | MT-ND6 | Achchuthan Shanmugasundram Phenotypes for gene: MT-ND6 were changed from LHON; peripheral neuropathy to Leber hereditary optic neuropathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.131 | MT-ND6 | Achchuthan Shanmugasundram reviewed gene: MT-ND6: Rating: RED; Mode of pathogenicity: None; Publications: 17724295, 20301353, 27111573, 38975939; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v3.60 | MT-ND6 |
Dmitrijs Rots gene: MT-ND6 was added gene: MT-ND6 was added to Hereditary neuropathy or pain disorder. Sources: Literature Mode of inheritance for gene gene: MT-ND6 was set to MITOCHONDRIAL Publications for gene: MT-ND6 were set to PMID: 20301353 Phenotypes for gene: MT-ND6 were set to LHON; peripheral neuropathy Penetrance for gene: MT-ND6 were set to unknown Mode of pathogenicity for gene: MT-ND6 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: MT-ND6 was set to GREEN Added comment: Gene is associated with LHON, but GeneReviews states: "Neurologic abnormalities such as postural tremor, peripheral neuropathy, nonspecific myopathy, and movement disorders have been reported to be more common in individuals with LHON than in the general population. ". Identified in our lab in a young patient with peripheral neuropathy phenotype only. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||