Activity
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| DDG2P v6.87 | CACNA2D1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: CACNA2D1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | CACNA2D1 | Achchuthan Shanmugasundram edited their review of gene: CACNA2D1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CACNA2D1-related neurodevelopmental disorder are limited, biallelic_autosomal and undetermined (PMID:35293990). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03462.; Changed phenotypes to: CACNA2D1-related neurodevelopmental disorder, MONDO:0859327, OMIM:620149.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CACNA2D1 | Achchuthan Shanmugasundram reviewed gene: CACNA2D1: Rating: RED; Mode of pathogenicity: Other; Publications: 35293990; Phenotypes: CACNA2D1-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CACNA2D1 |
Achchuthan Shanmugasundram gene: CACNA2D1 was added gene: CACNA2D1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: CACNA2D1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CACNA2D1 were set to 35293990 Phenotypes for gene: CACNA2D1 were set to CACNA2D1-related neurodevelopmental disorder Mode of pathogenicity for gene: CACNA2D1 was set to Other |
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