Activity
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| DDG2P v6.181 | GJA8 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: GJA8 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | GJA8 | Achchuthan Shanmugasundram edited their review of gene: GJA8: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GJA8-related cataract are definitive, monoallelic_autosomal and undetermined (PMIDs: 10480374, 11846744, 14627691, 16604058, 18006672, 28455998, 29464339, 30262699, 30373400, 30498267, 9497259). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01251.; Changed publications to: 16604058, 28455998, 30373400, 29464339, 9497259, 11846744, 18006672, 30498267, 30262699, 14627691, 10480374; Changed phenotypes to: OMIM:116200.0, MONDO:0007285, CATARACT-MICROCORNEA SYNDROME, OMIM:116150, GJA8-related cataract | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GJA8 | Achchuthan Shanmugasundram reviewed gene: GJA8: Rating: GREEN; Mode of pathogenicity: Other; Publications: 16604058, 18006672, 14627691, 9497259, 10480374, 11846744; Phenotypes: CATARACT-MICROCORNEA SYNDROME, OMIM:116150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | GJA8 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene GJA8 was changed from Other - please provide details in the comments to Other Publications for gene: GJA8 were updated from 16604058; 10480374; 18006672; 11846744; 9497259; 14627691 to 16604058; 18006672; 14627691; 9497259; 10480374; 11846744 |
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| DDG2P v0.2 | GJA8 | Rebecca Foulger reviewed gene: GJA8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GJA8 | Rebecca Foulger Added phenotypes CATARACT-MICROCORNEA SYNDROME 116150 for gene: GJA8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GJA8 |
Rebecca Foulger gene: GJA8 was added gene: GJA8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GJA8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GJA8 were set to 16604058; 10480374; 18006672; 11846744; 9497259; 14627691 Phenotypes for gene: GJA8 were set to CATARACT ZONULAR PULVERULENT TYPE 1 116200 Mode of pathogenicity for gene: GJA8 was set to Other - please provide details in the comments |
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