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 1.35

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 1.63

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 1.40
Latest signed off version: v1.6 (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 1.96

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
    Latest signed off version: v1.3 (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 2.43
    Latest signed off version: v2.2 (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 1.164

    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 1.20
    Latest signed off version: v1.2 (4 Mar 2020)

    Component of the following Super Panels:

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

    Green FOXC2 in Fetal anomalies


    Version 1.717
    Latest signed off version: v1.92 (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 2.46
    Latest signed off version: v2.2 (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 2.49
    Latest signed off version: v2.2 (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 3.1306
    Latest signed off version: v3.2 (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 2.18
    Latest signed off version: v2.2 (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 1.84

    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