Activity
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9 actions
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| DDG2P v6.323 | RNU4-2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: RNU4-2 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | RNU4-2 | Achchuthan Shanmugasundram Tag de novo tag was added to gene: RNU4-2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | RNU4-2 | Achchuthan Shanmugasundram edited their review of gene: RNU4-2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RNU4-2 related neurodevelopmental disorder with microcephaly and seizures (ReNU syndrome) are strong, monoallelic_autosomal and loss of function (PMIDs: 38821540, 38991538, 39369315, 39434505, 40011755, 40379786). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03537.; Changed publications to: 38991538, 39369315, 40011755, 39434505, 38821540, 40379786; Changed phenotypes to: RNU4-2 related neurodevelopmental disorder with microcephaly and seizures (ReNU syndrome), OMIM:620851.0, MONDO:0971172, RNU4-2 related neurodevelopmental disorder with microcephaly and seizures | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.47 | RNU4-2 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has now been associated with relevant phenotypes in OMIM (MIM #620851). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.47 | RNU4-2 | Achchuthan Shanmugasundram Phenotypes for gene: RNU4-2 were changed from RNU4-2 related neurodevelopmental disorder with microcephaly and seizures to RNU4-2 related neurodevelopmental disorder with microcephaly and seizures | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.13 | RNU4-2 | Arina Puzriakova Tag gene-checked tag was added to gene: RNU4-2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.13 | RNU4-2 | Arina Puzriakova Tag locus-type-rna-small-nuclear tag was added to gene: RNU4-2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | RNU4-2 | Achchuthan Shanmugasundram reviewed gene: RNU4-2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 38821540, 38991538; Phenotypes: RNU4-2 related neurodevelopmental disorder with microcephaly and seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.9 | RNU4-2 |
Achchuthan Shanmugasundram gene: RNU4-2 was added gene: RNU4-2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RNU4-2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RNU4-2 were set to 38821540; 38991538 Phenotypes for gene: RNU4-2 were set to RNU4-2 related neurodevelopmental disorder with microcephaly and seizures Mode of pathogenicity for gene: RNU4-2 was set to Other |
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