Activity
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6 actions
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| DDG2P v6.271 | NFU1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: NFU1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | NFU1 | Achchuthan Shanmugasundram edited their review of gene: NFU1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NFU1-related multiple mitochondrial dysfunctions syndrome are definitive, biallelic_autosomal and undetermined (PMIDs: 11156534, 22077971). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00303.; Changed publications to: 22077971, 11156534; Changed phenotypes to: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, OMIM:605711, MONDO:0011582, NFU1-related multiple mitochondrial dysfunctions syndrome, OMIM:605711.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NFU1 | Achchuthan Shanmugasundram reviewed gene: NFU1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 11156534, 22077971; Phenotypes: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, OMIM:605711; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NFU1 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene NFU1 was changed from Other - please provide details in the comments to Other Publications for gene: NFU1 were updated from 22077971; 11156534 to 11156534; 22077971 |
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| DDG2P v0.2 | NFU1 | Rebecca Foulger reviewed gene: NFU1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | NFU1 |
Rebecca Foulger gene: NFU1 was added gene: NFU1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NFU1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NFU1 were set to 22077971; 11156534 Phenotypes for gene: NFU1 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 605711 Mode of pathogenicity for gene: NFU1 was set to Other - please provide details in the comments |
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