Activity
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5 actions
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| DDG2P v6.417 | ZBTB47 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: ZBTB47 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | ZBTB47 | Achchuthan Shanmugasundram commented on gene: ZBTB47: The DDG2P confidence category, allelic requirement and molecular mechanism for ZBTB47-related developmental delay, intellectual disability, hypotonia and seizures are limited, monoallelic_autosomal and undetermined (PMID:38327012). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03548. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.48 | ZBTB47 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: ZBTB47. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | ZBTB47 | Achchuthan Shanmugasundram reviewed gene: ZBTB47: Rating: RED; Mode of pathogenicity: Other; Publications: 38327012; Phenotypes: ZBTB47-related developmental delay, intellectual disability, hypotonia and seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.9 | ZBTB47 |
Achchuthan Shanmugasundram gene: ZBTB47 was added gene: ZBTB47 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ZBTB47 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZBTB47 were set to 38327012 Phenotypes for gene: ZBTB47 were set to ZBTB47-related developmental delay, intellectual disability, hypotonia and seizures Mode of pathogenicity for gene: ZBTB47 was set to Other |
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