Activity
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| Primary immunodeficiency or monogenic inflammatory bowel disease v8.70 | GCC2 |
Ida Ertmanska changed review comment from: Comment on list classification: As reviewed by Boaz Palterer, there are 2 unrelated individuals reported in literature with biallelic variants in GCC2 and recurrent viral infections (PMID:39813120). Hence, this gene should be rated Amber for Primary immunodeficiency or monogenic inflammatory bowel disease, until more evidence emerges. This gene is not yet associated with a phenotype in OMIM (accessed 31st Oct 2025).; to: Comment on list classification: As reviewed by Boaz Palterer, there are 2 unrelated individuals reported in literature with biallelic variants in GCC2 and recurrent viral infections, with demonstrated reduced natural killer cell function (PMID:39813120). Hence, this gene should be rated Amber for Primary immunodeficiency or monogenic inflammatory bowel disease, until more evidence emerges. This gene is not yet associated with a phenotype in OMIM (accessed 31st Oct 2025). |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v8.70 | GCC2 | Ida Ertmanska Classified gene: GCC2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v8.70 | GCC2 | Ida Ertmanska Gene: gcc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v8.69 | GCC2 | Ida Ertmanska reviewed gene: GCC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 39813120; Phenotypes: NK cell deficiency, recurrent viral infections, immunodeficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v7.26 | GCC2 |
Boaz Palterer gene: GCC2 was added gene: GCC2 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. 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 NK cell deficiency; recurrent viral infections; immunodeficiency Penetrance for gene: GCC2 were set to unknown Review for gene: GCC2 was set to RED Added comment: Pedroza et al. described 2 patients in two separate kindreds with compound heterozygous GCC2 mutations presenting in childhood with recurrent viral infections, normal NK cell numbers but reduced NK cell function. During NK cell activation, lytic granules (LGs) converge to the MTOC, enabling precision in cytotoxicity. Pedroza et al. demonstrate that GCC2 maintains convergence via tethering LGs to the Golgi. Absence of GCC2 leads to LG dispersion, non-directed degranulation, and bystander killing, and biallelic missense variants result in human NK cell deficiency. Sources: Literature |
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