FOXP3

forkhead box P3
OMIM: 300292, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Green FOXP3 in Vasculitis


Level 2: Immunological disorders
Version 0.86

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Red FOXP3 in Cataract


Level 2: Ophthalmological disorders
Version 0.373

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790

Green FOXP3 in Congenital Diarrhoea


Level 2: Gastroenterological disorders
Version 1.13

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked , MIM#304790
Tags
  • treatable

Green FOXP3 in Hydrops fetalis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.324

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790

Green FOXP3 in Inflammatory bowel disease


Level 2: Gastroenterological disorders
Version 0.124

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green FOXP3 in Mendeliome


    Version 1.2374

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790
    Tags
    • treatable

    Red FOXP3 in Muscular dystrophy and myopathy_Paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.85

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • congenital myopathy MONDO:0019952

    Green FOXP3 in Disorders of immune dysregulation


    Level 2: Immunological disorders
    Version 1.10

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review Unknown
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Tags
    • treatable

    Green FOXP3 in Monogenic Diabetes


    Level 2: Endocrine disorders
    Version 0.137

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • UKGTN
    Phenotypes
    • immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome MONDO:0010580

    Green FOXP3 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 (3)

    Green FOXP3 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • IPEX syndrome

    Green FOXP3 in Fetal anomalies


    Version 1.314

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790

    Green FOXP3 in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 (3)

    Green FOXP3 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    • BeginNGS
    Phenotypes
    • IPEX syndrome, MIM#304790
    Tags
    • treatable
    • immunological