Activity
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6 actions
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| DDG2P v6.267 | NDUFA9 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: NDUFA9 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | NDUFA9 | Achchuthan Shanmugasundram edited their review of gene: NDUFA9: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NDUFA9-related Leigh syndrome are limited, biallelic_autosomal and undetermined (PMIDs: 22114105, 28671271, 28853723). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01698.; Changed publications to: 22114105, 28671271, 28853723; Changed phenotypes to: NDUFA9-related Leigh syndrome, LEIGH SYNDROME, OMIM:256000, OMIM:256000.0, MONDO:0009723 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NDUFA9 | Achchuthan Shanmugasundram reviewed gene: NDUFA9: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: LEIGH SYNDROME, OMIM:256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NDUFA9 | Achchuthan Shanmugasundram Mode of pathogenicity for gene NDUFA9 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NDUFA9 | Rebecca Foulger reviewed gene: NDUFA9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | NDUFA9 |
Rebecca Foulger gene: NDUFA9 was added gene: NDUFA9 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: NDUFA9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFA9 were set to LEIGH SYNDROME 256000 Mode of pathogenicity for gene: NDUFA9 was set to Other - please provide details in the comments |
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