| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Disorders of immune dysregulation v0.214 | NFATC2 | Bryony Thompson Marked gene: NFATC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.214 | NFATC2 | Bryony Thompson Gene: nfatc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.214 | NFATC2 | Bryony Thompson Classified gene: NFATC2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.214 | NFATC2 | Bryony Thompson Gene: nfatc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.213 | NFATC2 |
Bryony Thompson gene: NFATC2 was added gene: NFATC2 was added to Disorders of immune dysregulation. Sources: Expert list Mode of inheritance for gene: NFATC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NFATC2 were set to 35789258; 38427060 Phenotypes for gene: NFATC2 were set to Lymphoproliferative syndrome, MONDO:0016537, NFATC2-related Review for gene: NFATC2 was set to AMBER Added comment: 2 consanguineous families are reported with homozygous variants (a frameshift & an in-frame deletion). Both families have a lymphoproliferative disorder and one family also had soft tissue and cartilage abnormalities. IUIS IEI committee classify NFATC2-deficiency as a disease of immune dysregulation. Sources: Expert list |
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