Activity
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6 actions
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| DDG2P v6.361 | SOX4 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: SOX4 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | SOX4 | Achchuthan Shanmugasundram edited their review of gene: SOX4: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SOX4-related neurodevelopmental disease associated with mild dysmorphism are strong, monoallelic_autosomal and undetermined (PMIDs: 30661772, 35232796). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02643.; Changed publications to: 30661772, 35232796; Changed phenotypes to: Neurodevelopmental Disease Associated with Mild Dysmorphism, SOX4-related neurodevelopmental disease associated with mild dysmorphism, OMIM:618506.0, MONDO:0032791 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SOX4 | Achchuthan Shanmugasundram reviewed gene: SOX4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35232796, 30661772; Phenotypes: Neurodevelopmental Disease Associated with Mild Dysmorphism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SOX4 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SOX4. Mode of pathogenicity for gene SOX4 was changed from Other - please provide details in the comments to Other Publications for gene: SOX4 were updated from 30661772 to 35232796; 30661772 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v1.38 | SOX4 | Rebecca Foulger reviewed gene: SOX4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.37 | SOX4 |
Rebecca Foulger gene: SOX4 was added gene: SOX4 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SOX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SOX4 were set to 30661772 Phenotypes for gene: SOX4 were set to Neurodevelopmental Disease Associated with Mild Dysmorphism Mode of pathogenicity for gene: SOX4 was set to Other - please provide details in the comments |
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