Activity
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6 actions
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| DDG2P v6.283 | PDSS1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: PDSS1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | PDSS1 | Achchuthan Shanmugasundram edited their review of gene: PDSS1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PDSS1-related coenzyme Q10 deficiency, primary are strong, biallelic_autosomal and undetermined (PMID:17332895). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00213.; Changed phenotypes to: OMIM:614651.0, COENZYME Q10 DEFICIENCY, PRIMARY, 2, OMIM:614651, PDSS1-related coenzyme Q10 deficiency, primary | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PDSS1 | Achchuthan Shanmugasundram reviewed gene: PDSS1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17332895; Phenotypes: COENZYME Q10 DEFICIENCY, PRIMARY, 2, OMIM:614651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PDSS1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PDSS1. Mode of pathogenicity for gene PDSS1 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 | PDSS1 | Rebecca Foulger reviewed gene: PDSS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PDSS1 |
Rebecca Foulger gene: PDSS1 was added gene: PDSS1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PDSS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDSS1 were set to 17332895 Phenotypes for gene: PDSS1 were set to COENZYME Q10 DEFICIENCY, PRIMARY, 2 614651 Mode of pathogenicity for gene: PDSS1 was set to Other - please provide details in the comments |
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