Activity
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6 actions
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| DDG2P v6.266 | NDUFA10 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: NDUFA10 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | NDUFA10 | Achchuthan Shanmugasundram edited their review of gene: NDUFA10: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NDUFA10-related Leigh syndrome are strong, biallelic_autosomal and undetermined (PMIDs: 21150889, 26741492, 28247337, 36270260). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01697.; Changed publications to: 28247337, 36270260, 21150889, 26741492; Changed phenotypes to: OMIM:618243.0, NDUFA10-related Leigh syndrome, LEIGH SYNDROME DUP, OMIM:256000, MONDO:0032626 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NDUFA10 | Achchuthan Shanmugasundram reviewed gene: NDUFA10: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: LEIGH SYNDROME DUP, OMIM:256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NDUFA10 |
Achchuthan Shanmugasundram Source Expert Review Green was added to NDUFA10. Mode of pathogenicity for gene NDUFA10 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 | NDUFA10 | Rebecca Foulger reviewed gene: NDUFA10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | NDUFA10 |
Rebecca Foulger gene: NDUFA10 was added gene: NDUFA10 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NDUFA10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFA10 were set to LEIGH SYNDROME DUP 256000 Mode of pathogenicity for gene: NDUFA10 was set to Other - please provide details in the comments |
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