PanelApp (test)
  1. Genes and Genomic Entities
  2. NFAT5:Ensemblv90

NFAT5:Ensemblv90

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber NFAT5 in Mendeliome


Version 1.3802

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 1.34

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  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

    Amber NFAT5 in Disorders of immune dysregulation


    Level 2: Immunological disorders
    Version 2.0

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