NFATC2

nuclear factor of activated T-cells 2
OMIM: 600490, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Red NFATC2 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.417

Component of the following Super Panels:

  • Neuromuscular Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Skeletal system disorder MONDO:0005172

    Amber NFATC2 in Mendeliome


    Version 1.2374

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Skeletal system disorder MONDO:0005172
    • Lymphoproliferative syndrome, MONDO:0016537, NFATC2-related

    Amber NFATC2 in Disorders of immune dysregulation


    Level 2: Immunological disorders
    Version 1.10

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    • Literature
    Phenotypes
    • Lymphoproliferative syndrome, MONDO:0016537, NFATC2-related

    Amber NFATC2 in Susceptibility to Viral Infections


    Level 2: Immunological disorders
    Version 0.131

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Lymphoproliferative syndrome, MONDO:0016537, NFATC2-related

    Red NFATC2 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.305

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Skeletal system disorder MONDO:0005172