Activity
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6 actions
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| DDG2P v6.172 | GABRB2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: GABRB2 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | GABRB2 | Achchuthan Shanmugasundram edited their review of gene: GABRB2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GABRB2-related epilepsy and intellectual disability are strong, monoallelic_autosomal and undetermined (PMID:29100083). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02377.; Changed phenotypes to: Epilepsy and intellectual disability, GABRB2-related epilepsy and intellectual disability, OMIM:617829.0, MONDO:0020631 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GABRB2 | Achchuthan Shanmugasundram reviewed gene: GABRB2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29100083; Phenotypes: Epilepsy and intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | GABRB2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to GABRB2. Mode of pathogenicity for gene GABRB2 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | GABRB2 | Rebecca Foulger reviewed gene: GABRB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GABRB2 |
Rebecca Foulger gene: GABRB2 was added gene: GABRB2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GABRB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GABRB2 were set to 29100083 Phenotypes for gene: GABRB2 were set to Epilepsy and intellectual disability Mode of pathogenicity for gene: GABRB2 was set to Other - please provide details in the comments |
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