| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mendeliome v1.3864 | GCC2 | Zornitza Stark Marked gene: GCC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3864 | GCC2 | Zornitza Stark Gene: gcc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3864 | GCC2 | Zornitza Stark Classified gene: GCC2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3864 | GCC2 | Zornitza Stark Gene: gcc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3863 | GCC2 |
Zornitza Stark gene: GCC2 was added gene: GCC2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: GCC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GCC2 were set to 39813120 Phenotypes for gene: GCC2 were set to Inborn error of immunity, MONDO:0003778, GCC2-related Review for gene: GCC2 was set to AMBER Added comment: PMID 39813120 reports two individuals from two families with compound het missense GCC2 variants presenting with natural killer cell deficiency, recurrent viral infections, and impaired lytic granule convergence. Functional assays show markedly reduced NK cell cytotoxicity and defective granule convergence, which is rescued by wild‑type GCC2 but not by the E1608G mutant. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||