Activity
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6 actions
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| DDG2P v6.326 | RUBCN | Achchuthan Shanmugasundram Mode of pathogenicity for gene: RUBCN was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | RUBCN | Achchuthan Shanmugasundram edited their review of gene: RUBCN: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RUBCN-related syndromic intellectual disability with ataxia, dysarthria and epilepsy are limited, biallelic_autosomal and undetermined (PMIDs: 20826435, 32450808). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00613.; Changed publications to: 32450808, 20826435; Changed phenotypes to: OMIM:615705.0, RUBCN-related syndromic intellectual disability with ataxia, dysarthria and epilepsy, SYNDROMIC MR WITH ATAXIA, DYSARTHRIA AND EPILEPSY, MONDO:0014311 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RUBCN | Achchuthan Shanmugasundram reviewed gene: RUBCN: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: SYNDROMIC MR WITH ATAXIA, DYSARTHRIA AND EPILEPSY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RUBCN | Achchuthan Shanmugasundram Mode of pathogenicity for gene RUBCN was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | RUBCN | Rebecca Foulger reviewed gene: RUBCN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | RUBCN |
Rebecca Foulger gene: RUBCN was added gene: RUBCN was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: RUBCN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RUBCN were set to SYNDROMIC MR WITH ATAXIA, DYSARTHRIA AND EPILEPSY Mode of pathogenicity for gene: RUBCN was set to Other - please provide details in the comments |
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