NFATC1

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

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber NFATC1 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
  • inborn error of immunity, MONDO:0003778
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)