NFATC2

nuclear factor of activated T-cells 2
OMIM: 600490, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber NFATC2 in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 9.102
Latest signed off version: v9.91 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • ?Joint contracture, osteochondromas, and B-cell lymphoma, OMIM:620232
  • joint contractures, osteochondromas, and B-cell lymphoma, MONDO:0859369
  • lymphoproliferative syndrome, MONDO:0016537
Tags
  • watchlist
Red NFATC2 in Arthrogryposis


Level 2: Neurology
Version 10.20
Latest signed off version: v10.16 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • ?Joint contracture, osteochondromas, and B-cell lymphoma, OMIM:620232
  • joint contractures, osteochondromas, and B-cell lymphoma, MONDO:0859369