Activity
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7 actions
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| DDG2P v6.422 | ZSCAN10 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: ZSCAN10 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | ZSCAN10 | Achchuthan Shanmugasundram commented on gene: ZSCAN10: The DDG2P confidence category, allelic requirement and molecular mechanism for ZSCAN10-related neurodevelopmental disorder with oto-facial malformations are moderate, biallelic_autosomal and loss of function (PMID:38386308). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03562. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.48 | ZSCAN10 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: ZSCAN10. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.48 | ZSCAN10 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has now been associated with relevant phenotypes in OMIM (MIM #620910). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.48 | ZSCAN10 | Achchuthan Shanmugasundram Phenotypes for gene: ZSCAN10 were changed from ZSCAN10-related neurodevelopmental disorder with oto-facial malformations to ZSCAN10-related neurodevelopmental disorder with oto-facial malformations | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | ZSCAN10 | Achchuthan Shanmugasundram reviewed gene: ZSCAN10: Rating: GREEN; Mode of pathogenicity: Other; Publications: 38386308; Phenotypes: ZSCAN10-related neurodevelopmental disorder with oto-facial malformations; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.2 | ZSCAN10 |
Achchuthan Shanmugasundram gene: ZSCAN10 was added gene: ZSCAN10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ZSCAN10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZSCAN10 were set to 38386308 Phenotypes for gene: ZSCAN10 were set to ZSCAN10-related neurodevelopmental disorder with oto-facial malformations Mode of pathogenicity for gene: ZSCAN10 was set to Other |
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