Activity
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6 actions
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| DDG2P v6.111 | CLPP | Achchuthan Shanmugasundram Mode of pathogenicity for gene: CLPP was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | CLPP | Achchuthan Shanmugasundram edited their review of gene: CLPP: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CLPP-related Perrault syndrome are strong, biallelic_autosomal and undetermined (PMID:23541340). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00456.; Changed phenotypes to: OMIM:614129.0, CLPP-related Perrault syndrome, MONDO:0013588, PERRAULT SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CLPP | Achchuthan Shanmugasundram reviewed gene: CLPP: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23541340; Phenotypes: PERRAULT SYNDROME; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CLPP |
Achchuthan Shanmugasundram Source Expert Review Green was added to CLPP. Mode of pathogenicity for gene CLPP 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 | CLPP | Rebecca Foulger reviewed gene: CLPP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | CLPP |
Rebecca Foulger gene: CLPP was added gene: CLPP was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLPP were set to 23541340 Phenotypes for gene: CLPP were set to PERRAULT SYNDROME Mode of pathogenicity for gene: CLPP was set to Other - please provide details in the comments |
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