Activity
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6 actions
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| DDG2P v6.93 | CDC42 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: CDC42 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | CDC42 | Achchuthan Shanmugasundram edited their review of gene: CDC42: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CDC42-related neurodevelopmental disorder are definitive, monoallelic_autosomal and undetermined (PMIDs: 26386261, 26708094, 29394990). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02933.; Changed publications to: 26708094, 26386261, 29394990; Changed phenotypes to: CDC42-related neurodevelopmental disorder, CDC42-related Neurodevelopmental Disorder, OMIM:616737.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CDC42BPB | Achchuthan Shanmugasundram reviewed gene: CDC42BPB: Rating: RED; Mode of pathogenicity: ; Publications: 32031333; Phenotypes: CDC42BPB-related Neurodevelopmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CDC42 | Achchuthan Shanmugasundram reviewed gene: CDC42: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26708094, 29394990, 26386261; Phenotypes: CDC42-related Neurodevelopmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CDC42BPB |
Achchuthan Shanmugasundram gene: CDC42BPB was added gene: CDC42BPB was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: CDC42BPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CDC42BPB were set to 32031333 Phenotypes for gene: CDC42BPB were set to CDC42BPB-related Neurodevelopmental Disorder |
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| DDG2P v3.11 | CDC42 |
Achchuthan Shanmugasundram gene: CDC42 was added gene: CDC42 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CDC42 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CDC42 were set to 26708094; 29394990; 26386261 Phenotypes for gene: CDC42 were set to CDC42-related Neurodevelopmental Disorder Mode of pathogenicity for gene: CDC42 was set to Other |
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