NFATC1

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

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber NFATC1 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Inborn error of immunity, MONDO:0003778, NFATC1-related
  • Combined Immune deficiency

Amber NFATC1 in Combined Immunodeficiency


Level 2: Immunological disorders
Version 1.66

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Inborn error of immunity, MONDO:0003778, NFATC1-related
    • Combined Immune deficiency

    Red NFATC1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Congenital heart disease

    Red NFATC1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Congenital heart disease