NFAT5

nuclear factor of activated T cells 5
OMIM: 604708, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber NFAT5 in Mendeliome


Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Immune deficiency disease, MONDO:0003778, NFAT5-related
  • Recurrent infections
  • Autoimmune enterocolopathy
  • EBV susceptibility
  • HLH

Amber NFAT5 in Disorders of immune dysregulation


Level 2: Immunological disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immune deficiency disease, MONDO:0003778, NFAT5-related
  • Recurrent infections
  • Autoimmune enterocolopathy
  • EBV susceptibility
  • HLH