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| DDG2P v6.171 | GABRA2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: GABRA2 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | GABRA2 | Achchuthan Shanmugasundram Tag de novo tag was added to gene: GABRA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | GABRA2 | Achchuthan Shanmugasundram edited their review of gene: GABRA2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GABRA2-related epileptic encephalopathy are strong, monoallelic_autosomal and undetermined (PMIDs: 29422393, 29961870, 31032849). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03475.; Changed publications to: 29961870, 31032849, 29422393; Changed phenotypes to: GABRA2-related epileptic encephalopathy, OMIM:618557.0, MONDO:0032812 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | GABRA2 | Achchuthan Shanmugasundram reviewed gene: GABRA2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29422393, 29961870, 31032849; Phenotypes: GABRA2-related epileptic encephalopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.9 | GABRA2 |
Achchuthan Shanmugasundram gene: GABRA2 was added gene: GABRA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GABRA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GABRA2 were set to 29422393; 29961870; 31032849 Phenotypes for gene: GABRA2 were set to GABRA2-related epileptic encephalopathy Mode of pathogenicity for gene: GABRA2 was set to Other |
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