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| DDG2P v6.179 | GJA3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: GJA3 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | GJA3 | Achchuthan Shanmugasundram edited their review of gene: GJA3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GJA3-related cataract are definitive, monoallelic_autosomal and undetermined (PMIDs: 10205266, 10746562, 15448617, 21681855, 22312188, 22550389, 22876138, 24772942, 26683566, 28877251, 29461512, 29934635). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01295.; Changed publications to: 10746562, 29934635, 29461512, 21681855, 22876138, 10205266, 26683566, 22550389, 28877251, 22312188, 15448617, 24772942; Changed phenotypes to: OMIM:601885.0, CATARACT ZONULAR PULVERULENT CATARACT TYPE 3, OMIM:601885, GJA3-related cataract, MONDO:0011162 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GJA3 | Achchuthan Shanmugasundram reviewed gene: GJA3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 15448617, 21681855, 22312188, 10746562, 22550389, 22876138, 10205266; Phenotypes: CATARACT ZONULAR PULVERULENT CATARACT TYPE 3, OMIM:601885; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | GJA3 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene GJA3 was changed from Other - please provide details in the comments to Other Publications for gene: GJA3 were updated from 10205266; 22550389; 21681855; 22876138; 15448617; 10746562; 22312188 to 15448617; 21681855; 22312188; 10746562; 22550389; 22876138; 10205266 |
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| DDG2P v0.2 | GJA3 | Rebecca Foulger reviewed gene: GJA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GJA3 |
Rebecca Foulger gene: GJA3 was added gene: GJA3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GJA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GJA3 were set to 10205266; 22550389; 21681855; 22876138; 15448617; 10746562; 22312188 Phenotypes for gene: GJA3 were set to CATARACT ZONULAR PULVERULENT CATARACT TYPE 3 601885 Mode of pathogenicity for gene: GJA3 was set to Other - please provide details in the comments |
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