| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DDG2P v3.69 | CRYBA4 | Achchuthan Shanmugasundram Phenotypes for gene: CRYBA4 were changed from MICROPHTHALMIA ISOLATED WITH CATARACT TYPE 4, OMIM:610426 to MICROPHTHALMIA ISOLATED WITH CATARACT TYPE 4, OMIM:610426 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.69 | CRYBA4 | Achchuthan Shanmugasundram Phenotypes for gene: CRYBA4 were changed from MICROPHTHALMIA ISOLATED WITH CATARACT TYPE 4, OMIM:610426 to MICROPHTHALMIA ISOLATED WITH CATARACT TYPE 4, OMIM:610426 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.69 | CRYBA4 | Achchuthan Shanmugasundram Phenotypes for gene: CRYBA4 were changed from CATARACT ZONULAR TYPE 2 610425; MICROPHTHALMIA ISOLATED WITH CATARACT TYPE 4 610426 to MICROPHTHALMIA ISOLATED WITH CATARACT TYPE 4, OMIM:610426 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.68 | CRYBA4 | Achchuthan Shanmugasundram Tag watchlist was removed from gene: CRYBA4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CRYBA4 | Achchuthan Shanmugasundram reviewed gene: CRYBA4: Rating: RED; Mode of pathogenicity: Other; Publications: 16960806, 15452067, 20577656; Phenotypes: MICROPHTHALMIA ISOLATED WITH CATARACT TYPE 4, OMIM:610426; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CRYBA4 |
Achchuthan Shanmugasundram Source Expert Review Red was added to CRYBA4. Mode of pathogenicity for gene CRYBA4 was changed from Other - please provide details in the comments to Other Publications for gene: CRYBA4 were updated from 16960806 to 16960806; 15452067; 20577656 Rating Changed from Green List (high evidence) to Red List (low evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.64 | CRYBA4 | Rebecca Foulger Classified gene: CRYBA4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.64 | CRYBA4 | Rebecca Foulger Gene: cryba4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | CRYBA4 | Rebecca Foulger edited their review of gene: CRYBA4: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for CATARACT ZONULAR TYPE 2.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.4 | CRYBA4 | Rebecca Foulger Tag watchlist tag was added to gene: CRYBA4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.4 | CRYBA4 | Rebecca Foulger commented on gene: CRYBA4: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CRYBA4 | Rebecca Foulger reviewed gene: CRYBA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | CRYBA4 |
Rebecca Foulger Added phenotypes MICROPHTHALMIA ISOLATED WITH CATARACT TYPE 4 610426 for gene: CRYBA4 Publications for gene CRYBA4 were changed from 16960806; 15452067 to 16960806 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | CRYBA4 |
Rebecca Foulger gene: CRYBA4 was added gene: CRYBA4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CRYBA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CRYBA4 were set to 16960806; 15452067 Phenotypes for gene: CRYBA4 were set to CATARACT ZONULAR TYPE 2 610425 Mode of pathogenicity for gene: CRYBA4 was set to Other - please provide details in the comments |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||