Activity
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8 actions
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| DDG2P v6.77 | BFSP2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: BFSP2 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | BFSP2 | Achchuthan Shanmugasundram edited their review of gene: BFSP2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for BFSP2-related cataract are definitive, monoallelic_autosomal and undetermined (PMIDs: 10634598, 10729115, 21836522). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00555.; Changed publications to: 21836522, 10729115, 10634598; Changed phenotypes to: CATARACT AUTOSOMAL DOMINANT BFSP2-RELATED, OMIM:611597, OMIM:611597.0, MONDO:0012701, BFSP2-related cataract | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BFSP2 | Achchuthan Shanmugasundram reviewed gene: BFSP2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 10634598, 10729115; Phenotypes: CATARACT AUTOSOMAL DOMINANT BFSP2-RELATED, OMIM:611597; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | BFSP2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene BFSP2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.76 | BFSP2 | Eleanor Williams commented on gene: BFSP2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.74 | BFSP2 | Dmitrijs Rots reviewed gene: BFSP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cataract; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | BFSP2 | Rebecca Foulger reviewed gene: BFSP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | BFSP2 |
Rebecca Foulger gene: BFSP2 was added gene: BFSP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BFSP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BFSP2 were set to 10634598; 10729115 Phenotypes for gene: BFSP2 were set to CATARACT AUTOSOMAL DOMINANT BFSP2-RELATED 611597 Mode of pathogenicity for gene: BFSP2 was set to Other - please provide details in the comments |
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