Activity
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6 actions
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| DDG2P v6.390 | TRMT10C | Achchuthan Shanmugasundram Mode of pathogenicity for gene: TRMT10C was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | TRMT10C | Achchuthan Shanmugasundram edited their review of gene: TRMT10C: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TRMT10C-related mitochondrial RNA processing and multiple respiratory chain deficiencies are strong, biallelic_autosomal and undetermined (PMID:27132592). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01736.; Changed phenotypes to: OMIM:616974.0, MONDO:0014856, Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies, TRMT10C-related mitochondrial RNA processing and multiple respiratory chain deficiencies | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TRMT10C | Achchuthan Shanmugasundram reviewed gene: TRMT10C: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27132592; Phenotypes: Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TRMT10C |
Achchuthan Shanmugasundram Source Expert Review Green was added to TRMT10C. Mode of pathogenicity for gene TRMT10C was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | TRMT10C | Rebecca Foulger reviewed gene: TRMT10C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | TRMT10C |
Rebecca Foulger gene: TRMT10C was added gene: TRMT10C was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TRMT10C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRMT10C were set to 27132592 Phenotypes for gene: TRMT10C were set to Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies Mode of pathogenicity for gene: TRMT10C was set to Other - please provide details in the comments |
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