Activity
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6 actions
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| DDG2P v6.247 | MED23 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: MED23 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | MED23 | Achchuthan Shanmugasundram edited their review of gene: MED23: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MED23-related intellectual developmental disorder are limited, biallelic_autosomal and undetermined (PMIDs: 21868677, 25845469, 30847200, 31164858). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00707.; Changed publications to: 31164858, 25845469, 30847200, 21868677; Changed phenotypes to: MED23-related intellectual developmental disorder, MONDO:0013651, INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE TYPE 18, OMIM:614249, OMIM:614249.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MED23 | Achchuthan Shanmugasundram reviewed gene: MED23: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE TYPE 18, OMIM:614249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MED23 | Achchuthan Shanmugasundram Mode of pathogenicity for gene MED23 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MED23 | Rebecca Foulger reviewed gene: MED23: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | MED23 |
Rebecca Foulger gene: MED23 was added gene: MED23 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: MED23 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MED23 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 18 614249 Mode of pathogenicity for gene: MED23 was set to Other - please provide details in the comments |
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