Activity
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| DDG2P v6.171 | GABBR2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: GABBR2 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | GABBR2 | Achchuthan Shanmugasundram edited their review of gene: GABBR2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GABBR2-related epileptic encephalopathy are strong, monoallelic_autosomal and undetermined (PMIDs: 25262651, 26740508, 28856709, 29100083, 29369404). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01145.; Changed publications to: 26740508, 29100083, 28856709, 25262651, 29369404; Changed phenotypes to: EPILEPTIC ENCEPHALOPATHY, GABBR2-related epileptic encephalopathy, MONDO:0033368, OMIM:617904.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GABBR2 | Achchuthan Shanmugasundram reviewed gene: GABBR2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29100083, 29369404, 26740508, 25262651, 28856709; Phenotypes: EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | GABBR2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to GABBR2. Mode of pathogenicity for gene GABBR2 was changed from Other - please provide details in the comments to Other Publications for gene: GABBR2 were updated from 25262651 to 29100083; 29369404; 26740508; 25262651; 28856709 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v0.2 | GABBR2 | Rebecca Foulger reviewed gene: GABBR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GABBR2 |
Rebecca Foulger gene: GABBR2 was added gene: GABBR2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: GABBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GABBR2 were set to 25262651 Phenotypes for gene: GABBR2 were set to EPILEPTIC ENCEPHALOPATHY Mode of pathogenicity for gene: GABBR2 was set to Other - please provide details in the comments |
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