Activity
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| DDG2P v6.173 | GABRG1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: GABRG1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | GABRG1 | Achchuthan Shanmugasundram edited their review of gene: GABRG1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GABRG1-related epileptic encephalopathy are limited, monoallelic_autosomal and undetermined (PMID:36121006). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03350.; Changed phenotypes to: GABRG1-associated epileptic encephalopathy, MONDO:0100062, GABRG1-related epileptic encephalopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GABRG1 | Achchuthan Shanmugasundram reviewed gene: GABRG1: Rating: RED; Mode of pathogenicity: Other; Publications: 36121006; Phenotypes: GABRG1-associated epileptic encephalopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | GABRG1 |
Achchuthan Shanmugasundram gene: GABRG1 was added gene: GABRG1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: GABRG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GABRG1 were set to 36121006 Phenotypes for gene: GABRG1 were set to GABRG1-associated epileptic encephalopathy Mode of pathogenicity for gene: GABRG1 was set to Other |
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