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 1.0

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 2.0

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 2.0

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 1.0

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 2.0

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