Activity
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6 actions
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| DDG2P v6.127 | CYC1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: CYC1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | CYC1 | Achchuthan Shanmugasundram edited their review of gene: CYC1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CYC1-related mitochondrial complex III deficiency, nuclear are definitive, biallelic_autosomal and undetermined (PMID:23910460). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00894.; Changed phenotypes to: OMIM:615453.0, CYC1-related mitochondrial complex III deficiency, nuclear, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, OMIM:615453, MONDO:0014194 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CYC1 | Achchuthan Shanmugasundram reviewed gene: CYC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23910460; Phenotypes: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, OMIM:615453; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CYC1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene CYC1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CYC1 | Rebecca Foulger reviewed gene: CYC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | CYC1 |
Rebecca Foulger gene: CYC1 was added gene: CYC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CYC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYC1 were set to 23910460 Phenotypes for gene: CYC1 were set to MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 615453 Mode of pathogenicity for gene: CYC1 was set to Other - please provide details in the comments |
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