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| DDG2P v6.325 | RRM1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: RRM1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | RRM1 | Achchuthan Shanmugasundram edited their review of gene: RRM1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RRM1-related mitochondrial DNA depletion/deletions syndrome are limited, biallelic_autosomal and undetermined (PMID:35617047). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03370. The DDG2P confidence category, allelic requirement and molecular mechanism for RRM1-related mitochondrial DNA depletion/deletions syndrome are limited, monoallelic_autosomal and undetermined (PMID:35617047). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03371.; Changed phenotypes to: MONDO:0957993, RRM1-related mitochondrial DNA depletion/deletions syndrome, OMIM:620647.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RRM1 | Achchuthan Shanmugasundram reviewed gene: RRM1: Rating: RED; Mode of pathogenicity: Other; Publications: 35617047; Phenotypes: RRM1-related mitochondrial DNA depletion/deletions syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RRM1 |
Achchuthan Shanmugasundram gene: RRM1 was added gene: RRM1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: RRM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RRM1 were set to 35617047 Phenotypes for gene: RRM1 were set to RRM1-related mitochondrial DNA depletion/deletions syndrome Mode of pathogenicity for gene: RRM1 was set to Other |
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