Activity
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4 actions
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| DDG2P v6.53 | ARF1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: ARF1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | ARF1 | Achchuthan Shanmugasundram edited their review of gene: ARF1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ARF1-related periventricular nodular heterotopia are strong, monoallelic_autosomal and undetermined (PMIDs: 28868155, 33057194, 34353862). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02983.; Changed publications to: 28868155, 33057194, 34353862; Changed phenotypes to: OMIM:618185.0, PERIVENTRICULAR NODULAR HETEROTOPIA 8, OMIM:618615, MONDO:0032588, ARF1-related periventricular nodular heterotopia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARF1 | Achchuthan Shanmugasundram reviewed gene: ARF1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33057194, 28868155, 34353862; Phenotypes: PERIVENTRICULAR NODULAR HETEROTOPIA 8, OMIM:618615; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ARF1 |
Achchuthan Shanmugasundram gene: ARF1 was added gene: ARF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ARF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ARF1 were set to 33057194; 28868155; 34353862 Phenotypes for gene: ARF1 were set to PERIVENTRICULAR NODULAR HETEROTOPIA 8, OMIM:618615 Mode of pathogenicity for gene: ARF1 was set to Other |
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