Activity
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6 actions
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| DDG2P v6.138 | DENND5B | Achchuthan Shanmugasundram Mode of pathogenicity for gene: DENND5B was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | DENND5B | Achchuthan Shanmugasundram Tag de novo tag was added to gene: DENND5B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | DENND5B | Achchuthan Shanmugasundram commented on gene: DENND5B: The DDG2P confidence category, allelic requirement and molecular mechanism for DENND5B-related neurodevelopmental disorder with cortical migration and white matter abnormalities are limited, monoallelic_autosomal and loss of function (PMID:38387458). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03547. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.11 | DENND5B | Arina Puzriakova Tag gene-checked tag was added to gene: DENND5B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | DENND5B | Achchuthan Shanmugasundram reviewed gene: DENND5B: Rating: RED; Mode of pathogenicity: Other; Publications: 38387458; Phenotypes: DENND5B-related neurodevelopmental disorder with cortical migration and white matter abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.9 | DENND5B |
Achchuthan Shanmugasundram gene: DENND5B was added gene: DENND5B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: DENND5B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DENND5B were set to 38387458 Phenotypes for gene: DENND5B were set to DENND5B-related neurodevelopmental disorder with cortical migration and white matter abnormalities Mode of pathogenicity for gene: DENND5B was set to Other |
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