Activity
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6 actions
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| DDG2P v6.416 | ZBTB16 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: ZBTB16 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | ZBTB16 | Achchuthan Shanmugasundram edited their review of gene: ZBTB16: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ZBTB16-related skeletal defects, genital hypoplasia, and intellectual developmental disorder are limited, biallelic_autosomal and undetermined (PMID:18611983). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00630.; Changed publications to: 18611983; Changed phenotypes to: MONDO:0012909, OMIM:612447.0, ZBTB16-related skeletal defects, genital hypoplasia, and intellectual developmental disorder, SKELETAL DEFECTS GENITAL HYPOPLASIA AND INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:612447 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ZBTB16 | Achchuthan Shanmugasundram reviewed gene: ZBTB16: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: SKELETAL DEFECTS GENITAL HYPOPLASIA AND INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:612447; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ZBTB16 | Achchuthan Shanmugasundram Mode of pathogenicity for gene ZBTB16 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ZBTB16 | Rebecca Foulger reviewed gene: ZBTB16: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ZBTB16 |
Rebecca Foulger gene: ZBTB16 was added gene: ZBTB16 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ZBTB16 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ZBTB16 were set to SKELETAL DEFECTS GENITAL HYPOPLASIA AND MENTAL RETARDATION 612447 Mode of pathogenicity for gene: ZBTB16 was set to Other - please provide details in the comments |
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