FOXC2

forkhead box C2
OMIM: 602402, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Green FOXC2 in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.28

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

Red FOXC2 in Diabetes with additional phenotypes suggestive of a monogenic aetiology

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.60

review Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Lymphedema-distichiasis syndrome, 153400
  • Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400

Amber FOXC2 in Rare genetic inflammatory skin disorders


Version 1.38
Signed off v.1.6 on 15 Oct 2020

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber

Red FOXC2 in Unexplained kidney failure in young people

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.92

Component of the following Super Panels:

  • Renal superpanel - broad
  • review Not set
    Sources
    • Expert Review Red
    • Expert list

    Green FOXC2 in Vascular skin disorders


    Version 1.47
    Signed off v.1.3 on 15 Oct 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Lymphoedema-distichiasis syndrome, OMIM:153400

    No list FOXC2 in Monogenic diabetes


    Version 2.41
    Signed off v.2.2 on 25 Feb 2020

    review Unknown
    Sources
    • Expert Review Removed
    Phenotypes
    • Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400
    • Lymphedema-distichiasis syndrome, 153400
    Tags
    • curated_removed

    Red FOXC2 in CAKUT

    Level 3: Structural renal and urinary tract disease
    Level 2: Renal and urinary tract disorders
    Version 1.160

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review Not set
    Sources
    • Expert Review Red
    • Expert list

    Red FOXC2 in Unexplained paediatric onset end-stage renal disease


    Version 1.16
    Signed off v.1.2 on 4 Mar 2020

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review Unknown
    Sources
    • Expert Review Red

    Green FOXC2 in Fetal anomalies


    Version 1.641
    Signed off v.1.92 on 21 Aug 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • LYMPHEDEMA-DISTICHIASIS SYNDROME
    • HEREDITARY LYMPHEDEMA II

    Green FOXC2 in DDG2P


    Version 2.25
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • LYMPHEDEMA-DISTICHIASIS SYNDROME 153400
    • HEREDITARY LYMPHEDEMA II 241432

    Green FOXC2 in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.24
    Signed off v.2.2 on 4 Mar 2020

    Component of the following Super Panels:

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

    Red FOXC2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1018
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Lymphedema-distichiasis syndrome, 153400
    • Lymphedema-distichiasis
    • syndrome with renal disease and diabetes mellitus, 153400

    Green FOXC2 in Primary lymphoedema

    Level 3: Lymphatic Disorders
    Level 2: Cardiovascular disorders
    Version 2.8
    Signed off v.2.2 on 2 Mar 2020

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

    Green FOXC2 in Severe Paediatric Disorders


    Version 1.75

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400
    • Lymphedema-distichiasis syndrome, 153400