| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DDG2P v3.12 | KPNA7 | Achchuthan Shanmugasundram reviewed gene: KPNA7: Rating: RED; Mode of pathogenicity: Other; Publications: 24045845; Phenotypes: Gomez-Lopez-Fernandes syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KPNA7 |
Achchuthan Shanmugasundram Mode of inheritance for gene KPNA7 was changed from to BIALLELIC, autosomal or pseudoautosomal Mode of pathogenicity for gene KPNA7 was changed from to Other |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KPNA7 | Rebecca Foulger reviewed gene: KPNA7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | KPNA7 |
Rebecca Foulger gene: KPNA7 was added gene: KPNA7 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: KPNA7 was set to Publications for gene: KPNA7 were set to 24045845 Phenotypes for gene: KPNA7 were set to Gomez-Lopez-Fernandes syndrome |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||