Activity
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6 actions
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| DDG2P v6.33 | ADSL | Achchuthan Shanmugasundram Mode of pathogenicity for gene: ADSL was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | ADSL | Achchuthan Shanmugasundram edited their review of gene: ADSL: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ADSL-related adenylosuccinase deficiency are definitive, biallelic_autosomal and undetermined (PMIDs: 10090474, 12016589, 18830228, 6150139, 9545543). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00673.; Changed publications to: 9545543, 6150139, 18830228, 12016589, 10090474; Changed phenotypes to: ADSL-related adenylosuccinase deficiency, ADENYLOSUCCINASE DEFICIENCY, OMIM:103050, OMIM:103050.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ADSL | Achchuthan Shanmugasundram reviewed gene: ADSL: Rating: GREEN; Mode of pathogenicity: Other; Publications: 12016589, 18830228, 6150139, 9545543, 10090474; Phenotypes: ADENYLOSUCCINASE DEFICIENCY, OMIM:103050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ADSL |
Achchuthan Shanmugasundram Mode of pathogenicity for gene ADSL was changed from Other - please provide details in the comments to Other Publications for gene: ADSL were updated from 10090474; 18830228; 6150139; 12016589; 9545543 to 12016589; 18830228; 6150139; 9545543; 10090474 |
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| DDG2P v0.2 | ADSL | Rebecca Foulger reviewed gene: ADSL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ADSL |
Rebecca Foulger gene: ADSL was added gene: ADSL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ADSL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADSL were set to 10090474; 18830228; 6150139; 12016589; 9545543 Phenotypes for gene: ADSL were set to ADENYLOSUCCINASE DEFICIENCY 103050 Mode of pathogenicity for gene: ADSL was set to Other - please provide details in the comments |
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