Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v9.97 | NFATC1 | Achchuthan Shanmugasundram Classified gene: NFATC1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v9.97 | NFATC1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is only one case and functional evidence available in support of the association of NFATC1 with immunodeficiency. Hence, this gene should be rated amber with the current evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v9.97 | NFATC1 | Achchuthan Shanmugasundram Gene: nfatc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v9.96 | NFATC1 | Achchuthan Shanmugasundram Phenotypes for gene: NFATC1 were changed from recurrent infections; hypogammaglobulinemia; decreased antibody responses to inborn error of immunity, MONDO:0003778 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v9.95 | NFATC1 | Achchuthan Shanmugasundram reviewed gene: NFATC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 37249233; Phenotypes: inborn error of immunity, MONDO:0003778; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v9.9 | NFATC1 |
Boaz Palterer gene: NFATC1 was added gene: NFATC1 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: NFATC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NFATC1 were set to 37249233 Phenotypes for gene: NFATC1 were set to recurrent infections; hypogammaglobulinemia; decreased antibody responses Penetrance for gene: NFATC1 were set to unknown Review for gene: NFATC1 was set to RED Added comment: NFATC1 encodes the nuclear factor of activated T cells 1, a key transcription factor critical for T and B cell activation, proliferation, and adaptive immune homeostasis. Kostel Bal et al. identified 3 patients from 1 family carrying biallelic pathogenic NFATC1 missense variants presenting with recurrent infections, hypogammaglobulinemia, and decreased antibody responses due to these profound metabolic and proliferative defects. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||