Activity
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7 actions
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| DDG2P v6.119 | COX10 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: COX10 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | COX10 | Achchuthan Shanmugasundram edited their review of gene: COX10: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for COX10-related Leigh syndrome are definitive, biallelic_autosomal and undetermined (PMIDs: 10767350, 12928484, 15455402). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01068.; Changed publications to: 12928484, 10767350, 15455402; Changed phenotypes to: OMIM:619046.0, LEIGH SYNDROME, OMIM:256000, COX10-related Leigh syndrome, MONDO:0033635 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COX10 | Achchuthan Shanmugasundram reviewed gene: COX10: Rating: GREEN; Mode of pathogenicity: Other; Publications: 15455402, 10767350, 12928484; Phenotypes: LEIGH SYNDROME, OMIM:256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | COX10 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene COX10 was changed from Other - please provide details in the comments to Other Publications for gene: COX10 were updated from 18499082; 10767350; 11013136; 10647889; 10545952 to 10767350; 15455402; 11013136; 18499082; 10545952; 12928484; 10647889 |
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| DDG2P v0.2 | COX10 | Rebecca Foulger reviewed gene: COX10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | COX10 |
Rebecca Foulger Added phenotypes MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110 for gene: COX10 Publications for gene COX10 were changed from 10944442; 20818383; 15214016; 9837813; 22499348; 19107570; 12928484; 15863660; 17604671; 10647889; 15455402; 9843204; 11317352; 10746566; 17275378 to 18499082; 10767350; 11013136; 10647889; 10545952 |
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| DDG2P v0.1 | COX10 |
Rebecca Foulger gene: COX10 was added gene: COX10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COX10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX10 were set to 10944442; 20818383; 15214016; 9837813; 22499348; 19107570; 12928484; 15863660; 17604671; 10647889; 15455402; 9843204; 11317352; 10746566; 17275378 Phenotypes for gene: COX10 were set to LEIGH SYNDROME 256000 Mode of pathogenicity for gene: COX10 was set to Other - please provide details in the comments |
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