Activity
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8 actions
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| DDG2P v6.424 | TRIT1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: TRIT1 was changed from Other - please provide details in the comments to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | TRIT1 | Achchuthan Shanmugasundram edited their review of gene: TRIT1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TRIT1-related tRNA isopentenyltransferase deficiency are limited, biallelic_autosomal and undetermined (PMIDs: 24901367, 28185376, 31140736, 32088416, 32948376). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01848.; Changed rating: RED; Changed publications to: 24901367, 32088416, 32948376, 28185376, 31140736; Changed phenotypes to: MONDO:0054742, OMIM:617873.0, TRIT1-related tRNA isopentenyltransferase deficiency, tRNA isopentenyltransferase deficiency | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.16 | TRIT1 |
Achchuthan Shanmugasundram Source Expert Review Red was added to TRIT1. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| DDG2P v3.73 | TRIT1 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: TRIT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TRIT1 | Achchuthan Shanmugasundram reviewed gene: TRIT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32088416, 28185376, 32948376, 31140736, 24901367; Phenotypes: tRNA isopentenyltransferase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TRIT1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TRIT1. Publications for gene: TRIT1 were updated from 24901367 to 32088416; 28185376; 32948376; 31140736; 24901367 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v0.2 | TRIT1 | Rebecca Foulger reviewed gene: TRIT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | TRIT1 |
Rebecca Foulger gene: TRIT1 was added gene: TRIT1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: TRIT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRIT1 were set to 24901367 Phenotypes for gene: TRIT1 were set to tRNA isopentenyltransferase deficiency Mode of pathogenicity for gene: TRIT1 was set to Other - please provide details in the comments |
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