Activity
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| DDG2P v6.214 | KAT5 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: KAT5 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | KAT5 | Achchuthan Shanmugasundram edited their review of gene: KAT5: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KAT5-related neurodevelopmental syndrome are strong, monoallelic_autosomal and undetermined (PMID:32822602). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03041.; Changed phenotypes to: OMIM:619103.0, KAT5-related Neurodevelopmental Syndrome, MONDO:0030852, KAT5-related neurodevelopmental syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KAT5 | Achchuthan Shanmugasundram reviewed gene: KAT5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32822602; Phenotypes: KAT5-related Neurodevelopmental Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KAT5 |
Achchuthan Shanmugasundram gene: KAT5 was added gene: KAT5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KAT5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KAT5 were set to 32822602 Phenotypes for gene: KAT5 were set to KAT5-related Neurodevelopmental Syndrome Mode of pathogenicity for gene: KAT5 was set to Other |
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