Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | RPS6KA3 | Achchuthan Shanmugasundram edited their review of gene: RPS6KA3: Added comment: The DDG2P confidence category for the disease RPS6KA3-related Coffin-Lowry syndrome, OMIM:303600 is definitive. The allelic requirement and mutation consequence are monoallelic_X_het and absent gene product;altered gene product structure (PMID: 14986828;10094187;9837815;32858545;26297997;8955270;35888677;11180593;15214012;16879200; 11992250;35038833;23261961;36125370;16691578;31400131;12558110;29678278;9887375;10319851;17717706;26043507;21614984;25044551; 12439904;10528858;17100996).; Changed publications to: 9887375, 17717706, 11180593, 31400131, 15214012, 26297997, 32858545, 14986828, 35038833, 12439904, 26043507, 23261961, 29678278, 35888677, 17100996, 11992250, 16879200, 10094187, 16691578, 9837815, 12558110, 10319851, 36125370, 21614984, 10528858, 25044551, 8955270; Changed phenotypes to: Coffin-Lowry Syndrome 2 RPS6KA3 XLD, Coffin-Lowry Syndrome 2 RPS6KA3 XLR, RPS6KA3-related Coffin-Lowry syndrome, OMIM:303600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RPS6KA3 | Achchuthan Shanmugasundram reviewed gene: RPS6KA3: Rating: GREEN; Mode of pathogenicity: ; Publications: 17717706, 10094187, 12439904, 8955270, 9887375, 9837815, 12558110, 10528858, 15214012, 14986828, 11992250; Phenotypes: Coffin-Lowry Syndrome 2 RPS6KA3 XLD, Coffin-Lowry Syndrome 2 RPS6KA3 XLR; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RPS6KA3 | Achchuthan Shanmugasundram Publications for gene: RPS6KA3 were updated from 10528858; 12439904; 17717706; 9887375; 12558110; 11992250; 9837815; 10094187; 15214012; 8955270; 14986828 to 17717706; 10094187; 12439904; 8955270; 9887375; 9837815; 12558110; 10528858; 15214012; 14986828; 11992250 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.45 | RPS6KA3 | Rebecca Foulger commented on gene: RPS6KA3: DDG2P updated 09/01/2019. Ratings remain as 'Confirmed' for both the XLD and XLR forms of Coffin-Lowry Syndrome. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.45 | RPS6KA3 | Rebecca Foulger Added comment: Comment on phenotypes: Updated phenotypes to match DDG2P update for 09/01/2019. 'COFFIN-LOWRY SYNDROME 303600' phenotype replaced. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.45 | RPS6KA3 | Rebecca Foulger Phenotypes for gene: RPS6KA3 were changed from COFFIN-LOWRY SYNDROME 303600 to Coffin-Lowry Syndrome 2 RPS6KA3 XLD; Coffin-Lowry Syndrome 2 RPS6KA3 XLR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | RPS6KA3 | Rebecca Foulger reviewed gene: RPS6KA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | RPS6KA3 | Rebecca Foulger Added phenotypes COFFIN-LOWRY SYNDROME 303600 for gene: RPS6KA3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | RPS6KA3 |
Rebecca Foulger gene: RPS6KA3 was added gene: RPS6KA3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RPS6KA3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: RPS6KA3 were set to 10528858; 12439904; 17717706; 9887375; 12558110; 11992250; 9837815; 10094187; 15214012; 8955270; 14986828 Phenotypes for gene: RPS6KA3 were set to COFFIN-LOWRY SYNDROME 303600 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||