FOXC2

forkhead box C2
OMIM: 602402, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Green FOXC2 in Eye Anterior Segment Abnormalities


Level 2: Ophthalmological disorders
Version 1.12

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lymphedema-distichiasis syndrome 153400

Red FOXC2 in Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic


Level 2: Renal and urinary tract disorders
Version 0.138

Component of the following Super Panels:

  • Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel
  • Kidneyome_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review Red
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus
    • OMIM #153400

    Red FOXC2 in Congenital diaphragmatic hernia


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.14

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Lymphedema-distichiasis syndrome, MIM# 153400

    Green FOXC2 in Congenital Heart Defect


    Level 2: Cardiovascular disorders
    Version 0.418

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

    Green FOXC2 in Hydrops fetalis


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.313

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Lymphoedema-distichiasis syndrome, MIM:153400

    Amber FOXC2 in Interstitial Lung Disease


    Level 2: Respiratory disorders
    Version 1.0

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus 153400
    • infant pulmonary lymphangiectasia

    Green FOXC2 in Lymphoedema_nonsyndromic


    Level 2: Cardiovascular disorders
    Version 0.39

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel
  • review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green FOXC2 in Mendeliome


    Version 1.1902

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Lymphoedema-distichiasis syndrome, MIM# 153400

    Green FOXC2 in Pierre Robin Sequence


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.47

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

    Red FOXC2 in Monogenic Diabetes


    Level 2: Endocrine disorders
    Version 0.134

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • review Unknown
    Sources
    • Radboud University Medical Center, Nijmegen
    • Expert Review Red
    Phenotypes
    • Lymphedema-distichiasis syndrome, 153400
    • Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400

    Green FOXC2 in Lymphoedema_syndromic

    Level 3: Lymphatic Disorders
    Level 2: Cardiovascular disorders
    Version 0.12

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • London South GLH
    • Expert Review Green
    • UKGTN
    • Eligibility statement prior genetic testing
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Lymphedema-distichiasis syndrome, 153400
    • Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400

    Green FOXC2 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Lymphoedema, primary

    Green FOXC2 in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.252

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Cleft palate
    • LYMPHEDEMA-DISTICHIASIS SYNDROME

    Green FOXC2 in Fetal anomalies


    Version 1.255

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Literature
    Phenotypes
    • Lymphoedema-distichiasis syndrome, MIM# 153400

    Red FOXC2 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Lymphoedema-distichiasis syndrome, MIM# 153400