| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.402 | RHOG | Arina Puzriakova Classified gene: RHOG as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.402 | RHOG | Arina Puzriakova Added comment: Comment on list classification: Rating Red as only a single case reported at present (PMID: 33513601). Relevant phenotype and some supportive functional data included. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.402 | RHOG | Arina Puzriakova Gene: rhog has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.392 | RHOG |
Boaz Palterer gene: RHOG was added gene: RHOG was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: RHOG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RHOG were set to 33513601 Phenotypes for gene: RHOG were set to HLH; hemophagocytic lymphohistiocytosis Penetrance for gene: RHOG were set to unknown Review for gene: RHOG was set to RED Added comment: One patient with HLH and impaired cytotoxic T lymphocyte and natural killer (NK) cell exocytosis functions, bearing biallelic deleterious mutations in the RhoG gene. Experimental ablation of RHOG in a model cell line and primary CTLs confirmed that RhoG engages in a protein-protein interaction with Munc13-4, an exocytosis protein essential for cytotoxic granules fusion with the plasma membrane. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||