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| DDG2P v6.342 | SLC25A22 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: SLC25A22 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | SLC25A22 | Achchuthan Shanmugasundram edited their review of gene: SLC25A22: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SLC25A22-related epileptic encephalopathy, early infantile are strong, biallelic_autosomal and undetermined (PMIDs: 15592994, 19780765, 24596948, 31279168, 33821742). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00635.; Changed publications to: 33821742, 15592994, 19780765, 31279168, 24596948; Changed phenotypes to: OMIM:609304.0, SLC25A22-related epileptic encephalopathy, early infantile, MONDO:0012245, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3, OMIM:609304 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC25A22 | Achchuthan Shanmugasundram reviewed gene: SLC25A22: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3, OMIM:609304; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SLC25A22 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SLC25A22. Mode of pathogenicity for gene SLC25A22 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 | SLC25A22 | Rebecca Foulger reviewed gene: SLC25A22: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SLC25A22 |
Rebecca Foulger gene: SLC25A22 was added gene: SLC25A22 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SLC25A22 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A22 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3 319213 Mode of pathogenicity for gene: SLC25A22 was set to Other - please provide details in the comments |
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