Activity
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11 actions
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| Hereditary neuropathy or pain disorder v7.41 | COX18 |
Arina Puzriakova Tag Q3_25_promote_green was removed from gene: COX18. Tag Q3_25_NHS_review was removed from gene: COX18. |
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| Hereditary neuropathy or pain disorder v7.41 | COX18 | Achchuthan Shanmugasundram commented on gene: COX18: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.40 | COX18 |
Arina Puzriakova Source NHS GMS was added to COX18. Source Expert Review Green was added to COX18. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Hereditary neuropathy or pain disorder v7.8 | COX18 | Achchuthan Shanmugasundram Classified gene: COX18 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.8 | COX18 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (four unrelated families and functional studies) for the association of biallelic COX18 variants with Charcot-Marie-Tooth disease. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.8 | COX18 | Achchuthan Shanmugasundram Gene: cox18 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.7 | COX18 | Achchuthan Shanmugasundram Phenotypes for gene: COX18 were changed from peripheral neuropathy to mitochondrial disease, MONDO:0044970; Charcot-Marie-Tooth disease, MONDO:0015626 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.6 | COX18 | Achchuthan Shanmugasundram Publications for gene: COX18 were set to 40830826 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.5 | COX18 |
Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: COX18. Tag Q3_25_NHS_review tag was added to gene: COX18. |
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| Hereditary neuropathy or pain disorder v7.5 | COX18 | Achchuthan Shanmugasundram reviewed gene: COX18: Rating: GREEN; Mode of pathogenicity: None; Publications: 37468577, 40830826; Phenotypes: mitochondrial disease, MONDO:0044970, Charcot-Marie-Tooth disease, MONDO:0015626; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.5 | COX18 |
Alexander Rossor gene: COX18 was added gene: COX18 was added to Hereditary neuropathy or pain disorder. Sources: Literature Mode of inheritance for gene: COX18 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX18 were set to 40830826 Phenotypes for gene: COX18 were set to peripheral neuropathy Penetrance for gene: COX18 were set to Complete Review for gene: COX18 was set to GREEN Added comment: 8 individuals from 3 families Sources: Literature |
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