Activity
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6 actions
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| DDG2P v6.125 | CRYBB3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: CRYBB3 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | CRYBB3 | Achchuthan Shanmugasundram edited their review of gene: CRYBB3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CRYBB3-related cataract are definitive, biallelic_autosomal and undetermined (PMIDs: 15914629, 19182255, 23508780, 27326458). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00941.; Changed publications to: 23508780, 19182255, 27326458, 15914629; Changed phenotypes to: OMIM:609741.0, CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2, OMIM:609741, CRYBB3-related cataract, MONDO:0012336 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CRYBB3 | Achchuthan Shanmugasundram reviewed gene: CRYBB3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 15914629; Phenotypes: CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2, OMIM:609741; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CRYBB3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene CRYBB3 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CRYBB3 | Rebecca Foulger reviewed gene: CRYBB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | CRYBB3 |
Rebecca Foulger gene: CRYBB3 was added gene: CRYBB3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CRYBB3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CRYBB3 were set to 15914629 Phenotypes for gene: CRYBB3 were set to CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2 609741 Mode of pathogenicity for gene: CRYBB3 was set to Other - please provide details in the comments |
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