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| DDG2P v6.129 | CYP1B1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: CYP1B1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | CYP1B1 | Achchuthan Shanmugasundram edited their review of gene: CYP1B1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CYP1B1-related primary congenital glaucoma, type 3A are definitive, biallelic_autosomal and undetermined (PMIDs: 10227395, 12372064, 15342693, 19643970, 19807744, 27777502, 9097971, 9463332, 9497261). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01364.; Changed publications to: 9497261, 12372064, 19807744, 9097971, 15342693, 27777502, 10227395, 9463332, 19643970; Changed phenotypes to: CYP1B1-related primary congenital glaucoma, type 3A, MONDO:0009277, PRIMARY CONGENITAL GLAUCOMA TYPE 3A, OMIM:231300, OMIM:231300.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CYP1B1 | Achchuthan Shanmugasundram reviewed gene: CYP1B1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 9463332, 19643970, 15342693, 19807744, 9497261, 10227395, 9097971, 27777502, 12372064; Phenotypes: PRIMARY CONGENITAL GLAUCOMA TYPE 3A, OMIM:231300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CYP1B1 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene CYP1B1 was changed from Other - please provide details in the comments to Other Publications for gene: CYP1B1 were updated from 9463332; 10227395; 9497261; 15342693; 19643970; 12372064; 19807744; 9097971 to 9463332; 19643970; 15342693; 19807744; 9497261; 10227395; 9097971; 27777502; 12372064 |
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| DDG2P v0.2 | CYP1B1 | Rebecca Foulger reviewed gene: CYP1B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | CYP1B1 |
Rebecca Foulger gene: CYP1B1 was added gene: CYP1B1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CYP1B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP1B1 were set to 9463332; 10227395; 9497261; 15342693; 19643970; 12372064; 19807744; 9097971 Phenotypes for gene: CYP1B1 were set to PRIMARY CONGENITAL GLAUCOMA TYPE 3A 231300 Mode of pathogenicity for gene: CYP1B1 was set to Other - please provide details in the comments |
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