Activity
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6 actions
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| DDG2P v6.400 | TUFM | Achchuthan Shanmugasundram Mode of pathogenicity for gene: TUFM was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | TUFM | Achchuthan Shanmugasundram edited their review of gene: TUFM: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TUFM-related combined oxidative phosphorylation deficiency are strong, biallelic_autosomal and undetermined (PMID:17160893). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01108.; Changed phenotypes to: TUFM-related combined oxidative phosphorylation deficiency, OMIM:610678.0, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, OMIM:610678, MONDO:0012534 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TUFM | Achchuthan Shanmugasundram reviewed gene: TUFM: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17160893; Phenotypes: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, OMIM:610678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TUFM |
Achchuthan Shanmugasundram Source Expert Review Green was added to TUFM. Mode of pathogenicity for gene TUFM 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 | TUFM | Rebecca Foulger reviewed gene: TUFM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | TUFM |
Rebecca Foulger gene: TUFM was added gene: TUFM was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TUFM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TUFM were set to 17160893 Phenotypes for gene: TUFM were set to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4 610678 Mode of pathogenicity for gene: TUFM was set to Other - please provide details in the comments |
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