Activity
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6 actions
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| DDG2P v6.146 | DNAAF5 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: DNAAF5 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | DNAAF5 | Achchuthan Shanmugasundram edited their review of gene: DNAAF5: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DNAAF5-related primary ciliary dyskinesia are strong, biallelic_autosomal and undetermined (PMID:23040496). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01197.; Changed phenotypes to: DNAAF5-related primary ciliary dyskinesia, MONDO:0013940, CILIARY DYSKINESIA, PRIMARY, 18, OMIM:614874, OMIM:614874.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DNAAF5 | Achchuthan Shanmugasundram reviewed gene: DNAAF5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23040496; Phenotypes: CILIARY DYSKINESIA, PRIMARY, 18, OMIM:614874; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DNAAF5 |
Achchuthan Shanmugasundram Source Expert Review Green was added to DNAAF5. Mode of pathogenicity for gene DNAAF5 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 | DNAAF5 | Rebecca Foulger reviewed gene: DNAAF5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | DNAAF5 |
Rebecca Foulger gene: DNAAF5 was added gene: DNAAF5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: DNAAF5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAAF5 were set to 23040496 Phenotypes for gene: DNAAF5 were set to CILIARY DYSKINESIA, PRIMARY, 18 614874 Mode of pathogenicity for gene: DNAAF5 was set to Other - please provide details in the comments |
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