Activity
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6 actions
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| DDG2P v6.405 | UQCRQ | Achchuthan Shanmugasundram Mode of pathogenicity for gene: UQCRQ was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | UQCRQ | Achchuthan Shanmugasundram edited their review of gene: UQCRQ: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for UQCRQ-related mitochondrial respiratory chain complex III deficiency are strong, biallelic_autosomal and undetermined (PMID:18439546). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01004.; Changed publications to: 18439546; Changed phenotypes to: MONDO:0014065, OMIM:615159.0, UQCRQ-related mitochondrial respiratory chain complex III deficiency, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRQ RELATED, OMIM:319211 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | UQCRQ | Achchuthan Shanmugasundram reviewed gene: UQCRQ: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRQ RELATED, OMIM:319211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | UQCRQ |
Achchuthan Shanmugasundram Source Expert Review Green was added to UQCRQ. Mode of pathogenicity for gene UQCRQ 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 | UQCRQ | Rebecca Foulger reviewed gene: UQCRQ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | UQCRQ |
Rebecca Foulger gene: UQCRQ was added gene: UQCRQ was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: UQCRQ was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UQCRQ were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRQ RELATED 319211 Mode of pathogenicity for gene: UQCRQ was set to Other - please provide details in the comments |
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