| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Autoinflammatory disorders v1.6 | PRF1 | Arina Puzriakova Publications for gene: PRF1 were set to 32098966 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v1.5 | PRF1 | Arina Puzriakova Classified gene: PRF1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v1.5 | PRF1 |
Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Lauma Freimane (Children's Clinical University Hospital). Biallelic variants are associated with Hemophagocytic Lymphohistiocytosis (HLH) with multiple unrelated cases reported. This is a hyperinflammatory disorder which leads to to impaired function of cytotoxic T cells and NK cells, consistent with a defect in cellular cytotoxicity. Acquired HLH can be caused by autoinflammatory and autoimmune diseases; however, familial HLH caused by biallelic variants in this gene do not necessarily cause autoinflammation. For this reason, rating this gene:disease association as amber on this panel. Cases should be picked up via the 'R15 Primary immunodeficiency or monogenic inflammatory bowel disease' panel, where it is already green. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v1.5 | PRF1 | Arina Puzriakova Gene: prf1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v1.4 | PRF1 | Arina Puzriakova Phenotypes for gene: PRF1 were changed from Familial hemophagocytic lymphohistiocytosis-2 (FHL2) (OMIM: 603553) to Hemophagocytic lymphohistiocytosis, familial, 2, OMIM:603553 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v1.1 | PRF1 |
Lauma Freimane gene: PRF1 was added gene: PRF1 was added to Autoinflammatory disorders. Sources: Literature Mode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRF1 were set to 32098966 Phenotypes for gene: PRF1 were set to Familial hemophagocytic lymphohistiocytosis-2 (FHL2) (OMIM: 603553) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||