NFATC1

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

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Red NFATC1 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.510

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • ClinGen
Phenotypes
  • Congenital heart disease, MONDO:0005453
Tags
  • disputed

Amber NFATC1 in Mendeliome


Version 1.3795

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • ClinGen
  • 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 1.138

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 1 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

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

    Red NFATC1 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.141

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