Activity
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11 actions
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| Hereditary neuropathy or pain disorder v8.17 | MT-TV | Arina Puzriakova Tag Q3_26_NHS_review tag was added to gene: MT-TV. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v8.12 | MT-TV | Achchuthan Shanmugasundram Classified gene: MT-TV as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v8.12 | MT-TV |
Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Alexander Rossor and Christopher Record, there is sufficient scientific evidence available for the association of MT-TV variants with hereditary neuropathy. However, it should be noted that the GMS reviewers previously disagreed on the inclusion of genes of the mitochondrial genome including MT-TV with green rating on other WGS/ non-WGS panels suggesting that an alternative test is more suitable for syndromic mitochondrial disease: R300 Possible mitochondrial disorder - whole mitochondrial genome sequencing. Hence, this gene has been tagged for expert review from GLH experts. |
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| Hereditary neuropathy or pain disorder v8.12 | MT-TV | Achchuthan Shanmugasundram Gene: mt-tv has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v8.11 | MT-TV | Achchuthan Shanmugasundram Phenotypes for gene: MT-TV were changed from peripheral neuropathy; spasticity to mitochondrial disease, MONDO:0044970; Charcot-Marie-Tooth disease, MONDO:0015626 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v8.10 | MT-TV | Achchuthan Shanmugasundram Publications for gene: MT-TV were set to 32715519: 39468830: 38371303 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v8.9 | MT-TV | Achchuthan Shanmugasundram Tag locus-type-rna-transfer tag was added to gene: MT-TV. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v8.9 | MT-TV |
Achchuthan Shanmugasundram Tag Q3_26_expert_review tag was added to gene: MT-TV. Tag Q3_26_promote_green tag was added to gene: MT-TV. |
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| Hereditary neuropathy or pain disorder v8.9 | MT-TV | Achchuthan Shanmugasundram reviewed gene: MT-TV: Rating: GREEN; Mode of pathogenicity: None; Publications: 32715519, 38371303, 39468830, 39243325; Phenotypes: mitochondrial disease, MONDO:0044970, Charcot-Marie-Tooth disease, MONDO:0015626; Mode of inheritance: MITOCHONDRIAL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v8.9 | MT-TV | Christopher Record reviewed gene: MT-TV: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32715519, 38371303, 39468830, 39243325; Phenotypes: Peripheral neuropathy, spasticity; Mode of inheritance: MITOCHONDRIAL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.45 | MT-TV |
Alexander Rossor gene: MT-TV was added gene: MT-TV was added to Hereditary neuropathy or pain disorder. Sources: Other Mode of inheritance for gene gene: MT-TV was set to MITOCHONDRIAL Publications for gene: MT-TV were set to 32715519: 39468830: 38371303 Phenotypes for gene: MT-TV were set to peripheral neuropathy; spasticity Mode of pathogenicity for gene: MT-TV 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-TV was set to GREEN Added comment: Described in 3 unrelated families with neuropathy and spasticity Sources: Other |
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