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| DDG2P v6.38 | AKT2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: AKT2 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | AKT2 | Achchuthan Shanmugasundram edited their review of gene: AKT2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for AKT2-related hypoinsulinemic hypoglycemia and hemihypertrophy are definitive, monoallelic_autosomal and undetermined (PMIDs: 21979934, 24285683, 26003998, 28541532). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03220.; Changed publications to: 21979934, 26003998, 24285683, 28541532; Changed phenotypes to: MONDO:0009416, AKT2-related hypoinsulinemic hypoglycemia and hemihypertrophy, OMIM:240900.0, AKT2-related hypoinsulinemic hypoglycemia and hemihypertrophy, OMIM:240900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AKT2 | Achchuthan Shanmugasundram reviewed gene: AKT2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28541532, 26003998, 24285683, 21979934; Phenotypes: AKT2-related hypoinsulinemic hypoglycemia and hemihypertrophy, OMIM:240900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | AKT2 |
Achchuthan Shanmugasundram gene: AKT2 was added gene: AKT2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: AKT2 were set to 28541532; 26003998; 24285683; 21979934 Phenotypes for gene: AKT2 were set to AKT2-related hypoinsulinemic hypoglycemia and hemihypertrophy, OMIM:240900 Mode of pathogenicity for gene: AKT2 was set to Other |
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