Activity
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6 actions
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| DDG2P v6.174 | GAD1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: GAD1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | GAD1 | Achchuthan Shanmugasundram edited their review of gene: GAD1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GAD1-related cerebral palsy spastic quadriplegic are limited, biallelic_autosomal and undetermined (PMID:15571623). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00998.; Changed phenotypes to: OMIM:619124.0, GAD1-related cerebral palsy spastic quadriplegic, CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 1, OMIM:603513, MONDO:0030856 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GAD1 | Achchuthan Shanmugasundram reviewed gene: GAD1: Rating: RED; Mode of pathogenicity: Other; Publications: 15571623; Phenotypes: CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 1, OMIM:603513; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | GAD1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene GAD1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GAD1 | Rebecca Foulger reviewed gene: GAD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GAD1 |
Rebecca Foulger gene: GAD1 was added gene: GAD1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: GAD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAD1 were set to 15571623 Phenotypes for gene: GAD1 were set to CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 1 603513 Mode of pathogenicity for gene: GAD1 was set to Other - please provide details in the comments |
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