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| DDG2P v6.341 | SLC1A2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: SLC1A2 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | SLC1A2 | Achchuthan Shanmugasundram edited their review of gene: SLC1A2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SLC1A2-related epileptic encephalopathy are strong, monoallelic_autosomal and undetermined (PMIDs: 27476654, 28777935). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01865.; Changed phenotypes to: EPILEPTIC ENCEPHALOPATHY, SLC1A2-related epileptic encephalopathy, MONDO:0014916, OMIM:617105.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC1A2 | Achchuthan Shanmugasundram reviewed gene: SLC1A2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27476654, 28777935; Phenotypes: EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SLC1A2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SLC1A2. Mode of pathogenicity for gene SLC1A2 was changed from Other - please provide details in the comments to Other Publications for gene: SLC1A2 were updated from 28777935; 27476654 to 27476654; 28777935 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | SLC1A2 | Rebecca Foulger reviewed gene: SLC1A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SLC1A2 |
Rebecca Foulger gene: SLC1A2 was added gene: SLC1A2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SLC1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC1A2 were set to 28777935; 27476654 Phenotypes for gene: SLC1A2 were set to EPILEPTIC ENCEPHALOPATHY Mode of pathogenicity for gene: SLC1A2 was set to Other - please provide details in the comments |
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