Activity
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6 actions
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| DDG2P v6.134 | DDX54 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: DDX54 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | DDX54 | Achchuthan Shanmugasundram edited their review of gene: DDX54: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DDX54-related intellectual disability and central nervous system anomalies are limited, biallelic_autosomal and undetermined (PMID:31256877). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02757.; Changed phenotypes to: DDX54-related intellectual disability and central nervous system anomalies, Intellectual Disability and Central Nervous System anomalies | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DDX54 | Achchuthan Shanmugasundram reviewed gene: DDX54: Rating: RED; Mode of pathogenicity: Other; Publications: 31256877; Phenotypes: Intellectual Disability and Central Nervous System anomalies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DDX54 | Achchuthan Shanmugasundram Mode of pathogenicity for gene DDX54 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.130 | DDX54 | Rebecca Foulger reviewed gene: DDX54: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.129 | DDX54 |
Rebecca Foulger gene: DDX54 was added gene: DDX54 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: DDX54 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDX54 were set to 31256877 Phenotypes for gene: DDX54 were set to Intellectual Disability and Central Nervous System anomalies Mode of pathogenicity for gene: DDX54 was set to Other - please provide details in the comments |
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