Activity
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4 actions
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| DDG2P v6.120 | COX18 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: COX18 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | COX18 | Achchuthan Shanmugasundram edited their review of gene: COX18: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for COX18-related peripheral neuropathy are limited, biallelic_autosomal and loss of function (PMIDs: 37468577, 38960055, 39006432). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03567.; Changed publications to: 39006432, 38960055, 37468577 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | COX18 | Achchuthan Shanmugasundram reviewed gene: COX18: Rating: RED; Mode of pathogenicity: Other; Publications: 37468577, 39006432, 38960055; Phenotypes: COX18-related peripheral neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.2 | COX18 |
Achchuthan Shanmugasundram gene: COX18 was added gene: COX18 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: COX18 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX18 were set to 38960055; 37468577; 39006432 Phenotypes for gene: COX18 were set to COX18-related peripheral neuropathy Mode of pathogenicity for gene: COX18 was set to Other |
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