Activity
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6 actions
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| DDG2P v6.143 | DHX30 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: DHX30 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | DHX30 | Achchuthan Shanmugasundram edited their review of gene: DHX30: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DHX30-related neurodevelopmental disorder are strong, monoallelic_autosomal and undetermined (PMID:29100085). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02380.; Changed phenotypes to: Neurodevelopmental Disorder, DHX30-related neurodevelopmental disorder, MONDO:0060622, OMIM:617804.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DHX30 | Achchuthan Shanmugasundram reviewed gene: DHX30: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29100085; Phenotypes: Neurodevelopmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DHX30 |
Achchuthan Shanmugasundram Source Expert Review Green was added to DHX30. Mode of pathogenicity for gene DHX30 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 v0.2 | DHX30 | Rebecca Foulger reviewed gene: DHX30: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | DHX30 |
Rebecca Foulger gene: DHX30 was added gene: DHX30 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: DHX30 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DHX30 were set to 29100085 Phenotypes for gene: DHX30 were set to Neurodevelopmental Disorder Mode of pathogenicity for gene: DHX30 was set to Other - please provide details in the comments |
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