Activity
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9 actions
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| DDG2P v5.12 | CRYBB2 | Achchuthan Shanmugasundram Publications for gene: CRYBB2 were set to 8812489; 11424921 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.11 | CRYBB2 | Achchuthan Shanmugasundram Phenotypes for gene: CRYBB2 were changed from CATARACT, CONGENITAL, CERULEAN TYPE, 2 601547; CATARACT, COPPOCK-LIKE 604307 to CRYBB2-related cataract, OMIM:601547 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.10 | CRYBB2 | Achchuthan Shanmugasundram edited their review of gene: CRYBB2: Changed phenotypes to: CRYBB2-related cataract, OMIM:601547 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | CRYBB2 | Achchuthan Shanmugasundram edited their review of gene: CRYBB2: Added comment: The DDG2P confidence category for the disease CRYBB2-related cataract, OMIM:601547 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product;altered gene product structure (PMID: 21245961;8812489;24312286;9158139;11424921;18449377;16179907;10634616;27385965).; Changed publications to: 27385965, 24312286, 8812489, 10634616, 9158139, 21245961, 18449377, 11424921, 16179907; Changed phenotypes to: CATARACT, COPPOCK-LIKE, OMIM:604307, CATARACT, CONGENITAL, CERULEAN TYPE, 2, OMIM:601547, CRYBB2-related cataract, OMIM:601547 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CRYBB2 | Achchuthan Shanmugasundram reviewed gene: CRYBB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 8812489, 11424921; Phenotypes: CATARACT, CONGENITAL, CERULEAN TYPE, 2, OMIM:601547, CATARACT, COPPOCK-LIKE, OMIM:604307; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CRYBB2 | Achchuthan Shanmugasundram Publications for gene: CRYBB2 were updated from 11424921; 8812489 to 8812489; 11424921 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CRYBB2 | Rebecca Foulger reviewed gene: CRYBB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | CRYBB2 |
Rebecca Foulger Added phenotypes CATARACT, CONGENITAL, CERULEAN TYPE, 2 601547 for gene: CRYBB2 Publications for gene CRYBB2 were changed from to 11424921; 8812489 |
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| DDG2P v0.1 | CRYBB2 |
Rebecca Foulger gene: CRYBB2 was added gene: CRYBB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CRYBB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CRYBB2 were set to CATARACT, COPPOCK-LIKE 604307 |
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