Activity
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| DDG2P v6.50 | ANO3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: ANO3 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | ANO3 | Achchuthan Shanmugasundram edited their review of gene: ANO3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ANO3-related dystonia are limited, monoallelic_autosomal and undetermined (PMIDs: 33502045, 38079528). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03570.; Changed publications to: 33502045, 38079528; Changed phenotypes to: OMIM:615034.0, ANO3-related dystonia, ANO3-related dystonia, OMIM:615034, MONDO:0014019 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | ANO3 | Achchuthan Shanmugasundram reviewed gene: ANO3: Rating: RED; Mode of pathogenicity: Other; Publications: 38079528, 33502045; Phenotypes: ANO3-related dystonia, OMIM:615034; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.2 | ANO3 |
Achchuthan Shanmugasundram gene: ANO3 was added gene: ANO3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ANO3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ANO3 were set to 38079528; 33502045 Phenotypes for gene: ANO3 were set to ANO3-related dystonia, OMIM:615034 Mode of pathogenicity for gene: ANO3 was set to Other |
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