Activity
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6 actions
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| DDG2P v6.142 | DHX16 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: DHX16 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | DHX16 | Achchuthan Shanmugasundram edited their review of gene: DHX16: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DHX16-related intellectual disability, central nervous system anomalies and seizures are limited, monoallelic_autosomal and undetermined (PMID:31256877). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02756.; Changed phenotypes to: Intellectual Disability, Central Nervous System anomalies and Seizures, DHX16-related intellectual disability, central nervous system anomalies and seizures, OMIM:618733.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DHX16 | Achchuthan Shanmugasundram reviewed gene: DHX16: Rating: RED; Mode of pathogenicity: Other; Publications: 31256877; Phenotypes: Intellectual Disability, Central Nervous System anomalies and Seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DHX16 | Achchuthan Shanmugasundram Mode of pathogenicity for gene DHX16 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.130 | DHX16 | Rebecca Foulger reviewed gene: DHX16: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.129 | DHX16 |
Rebecca Foulger gene: DHX16 was added gene: DHX16 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: DHX16 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DHX16 were set to 31256877 Phenotypes for gene: DHX16 were set to Intellectual Disability, Central Nervous System anomalies and Seizures Mode of pathogenicity for gene: DHX16 was set to Other - please provide details in the comments |
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