| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||