Activity
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4 actions
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| DDG2P v6.120 | CPSF3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: CPSF3 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | CPSF3 | Achchuthan Shanmugasundram edited their review of gene: CPSF3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CPSF3-related neurodevelopmental disorder with seizures and microcephaly are moderate, biallelic_autosomal and undetermined (PMID:35121750). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03239.; Changed phenotypes to: CPSF3-associated neurodevelopmental disorder with seizures and microcephaly, CPSF3-related neurodevelopmental disorder with seizures and microcephaly, MONDO:0859250, OMIM:619876.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CPSF3 | Achchuthan Shanmugasundram reviewed gene: CPSF3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35121750; Phenotypes: CPSF3-associated neurodevelopmental disorder with seizures and microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CPSF3 |
Achchuthan Shanmugasundram gene: CPSF3 was added gene: CPSF3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CPSF3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CPSF3 were set to 35121750 Phenotypes for gene: CPSF3 were set to CPSF3-associated neurodevelopmental disorder with seizures and microcephaly Mode of pathogenicity for gene: CPSF3 was set to Other |
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