Activity
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6 actions
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| DDG2P v6.319 | RHOBTB2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: RHOBTB2 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | RHOBTB2 | Achchuthan Shanmugasundram edited their review of gene: RHOBTB2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RHOBTB2-related developmental and epileptic encephalopathy are strong, monoallelic_autosomal and undetermined (PMID:29276004). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02589.; Changed phenotypes to: OMIM:618004.0, MONDO:0033373, Developmental and Epileptic Encephalopathy, RHOBTB2-related developmental and epileptic encephalopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RHOBTB2 | Achchuthan Shanmugasundram reviewed gene: RHOBTB2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29276004; Phenotypes: Developmental and Epileptic Encephalopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RHOBTB2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to RHOBTB2. Mode of pathogenicity for gene RHOBTB2 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 v1.38 | RHOBTB2 | Rebecca Foulger reviewed gene: RHOBTB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.37 | RHOBTB2 |
Rebecca Foulger gene: RHOBTB2 was added gene: RHOBTB2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: RHOBTB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RHOBTB2 were set to 29276004 Phenotypes for gene: RHOBTB2 were set to Developmental and Epileptic Encephalopathy Mode of pathogenicity for gene: RHOBTB2 was set to Other - please provide details in the comments |
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