NFATC1

nuclear factor of activated T-cells 1
OMIM: 600489, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
No list NFATC1 in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 9.23
Latest signed off version: v9.0 (6 May 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • recurrent infections
  • hypogammaglobulinemia
  • decreased antibody responses
Red NFATC1 in Familial non syndromic congenital heart disease

Level 3: Congenital heart disease
Level 2: Cardiovascular disorders
Version 1.90

review Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Tetralogy of Fallot (Silversides (2012) PLoS Genet 8)