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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