| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DDG2P v3.12 | FOXC1 | Achchuthan Shanmugasundram reviewed gene: FOXC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9792859, 18498376, 9326342, 11170889, 9620769, 17210863, 10713890, 19793056, 11007653; Phenotypes: AXENFELD-RIEGER SYNDROME TYPE 3, OMIM:602482; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | FOXC1 | Achchuthan Shanmugasundram Publications for gene: FOXC1 were updated from 11007653; 19793056 to 9792859; 18498376; 9326342; 11170889; 9620769; 17210863; 10713890; 19793056; 11007653 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FOXC1 | Rebecca Foulger reviewed gene: FOXC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | FOXC1 |
Rebecca Foulger Added phenotypes IRIDOGONIODYSGENESIS ANOMALY 601631 for gene: FOXC1 Publications for gene FOXC1 were changed from 11170889; 10713890; 18498376; 9792859; 17210863; 9620769; 9326342 to 11007653; 19793056 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | FOXC1 | Rebecca Foulger Added phenotypes PETERS ANOMALY 604229 for gene: FOXC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | FOXC1 |
Rebecca Foulger gene: FOXC1 was added gene: FOXC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FOXC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FOXC1 were set to 11170889; 10713890; 18498376; 9792859; 17210863; 9620769; 9326342 Phenotypes for gene: FOXC1 were set to AXENFELD-RIEGER SYNDROME TYPE 3 602482 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||