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| DDG2P v6.401 | U2AF2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: U2AF2 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | U2AF2 | Achchuthan Shanmugasundram edited their review of gene: U2AF2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for U2AF2-related neurodevelopmental disorder are strong, monoallelic_autosomal and undetermined (PMIDs: 33057194, 33644862, 34112922, 36747105, 37962958). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02884.; Changed publications to: 34112922, 33057194, 37962958, 36747105, 33644862; Changed phenotypes to: U2AF2-related developmental disorder (monoallelic), OMIM:620535.0, MONDO:0957810, U2AF2-related neurodevelopmental disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | U2AF2 | Achchuthan Shanmugasundram edited their review of gene: U2AF2: Added comment: The DDG2P confidence category for the disease U2AF2-related neurodevelopmental disorder is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 34112922;37962958;36747105;33644862;33057194).; Changed publications to: 36747105, 33057194, 37962958, 33644862, 34112922; Changed phenotypes to: U2AF2-related developmental disorder (monoallelic), U2AF2-related neurodevelopmental disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | U2AF2 | Achchuthan Shanmugasundram reviewed gene: U2AF2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33057194; Phenotypes: U2AF2-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | U2AF2 |
Achchuthan Shanmugasundram gene: U2AF2 was added gene: U2AF2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: U2AF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: U2AF2 were set to 33057194 Phenotypes for gene: U2AF2 were set to U2AF2-related developmental disorder (monoallelic) Mode of pathogenicity for gene: U2AF2 was set to Other |
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