Activity
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| DDG2P v6.156 | EPB41L3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: EPB41L3 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | EPB41L3 | Achchuthan Shanmugasundram edited their review of gene: EPB41L3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for EPB41L3-related developmental disorder with delayed myelination and seizures are moderate, biallelic_autosomal and loss of function (PMID:39292993). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03579.; Changed phenotypes to: MONDO:0100038, EPB41L3-related developmental disorder with delayed myelination and seizures | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.48 | EPB41L3 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: EPB41L3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | EPB41L3 | Achchuthan Shanmugasundram reviewed gene: EPB41L3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 39292993; Phenotypes: EPB41L3-related developmental disorder with delayed myelination and seizures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.2 | EPB41L3 |
Achchuthan Shanmugasundram gene: EPB41L3 was added gene: EPB41L3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EPB41L3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EPB41L3 were set to 39292993 Phenotypes for gene: EPB41L3 were set to EPB41L3-related developmental disorder with delayed myelination and seizures Mode of pathogenicity for gene: EPB41L3 was set to Other |
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