Activity
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6 actions
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| DDG2P v6.315 | RAC3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: RAC3 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | RAC3 | Achchuthan Shanmugasundram edited their review of gene: RAC3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RAC3-related neurodevelopment disorder are strong, monoallelic_autosomal and undetermined (PMID:30293988). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02570.; Changed phenotypes to: Neurodevelopment disorder, RAC3-related neurodevelopment disorder, MONDO:0032820, OMIM:618577.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RAC3 | Achchuthan Shanmugasundram reviewed gene: RAC3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30293988; Phenotypes: Neurodevelopment disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RAC3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to RAC3. Mode of pathogenicity for gene RAC3 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 v0.9 | RAC3 | Rebecca Foulger reviewed gene: RAC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.8 | RAC3 |
Rebecca Foulger gene: RAC3 was added gene: RAC3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: RAC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RAC3 were set to 30293988 Phenotypes for gene: RAC3 were set to Neurodevelopment disorder Mode of pathogenicity for gene: RAC3 was set to Other - please provide details in the comments |
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