1. Genes and Genomic Entities
  2. FOXC2

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 1.64

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 1.67

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 3.19
Latest signed off version: v3.0 (22 Mar 2023)

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 1.118

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 1.63
    Latest signed off version: v1.3 (15 Oct 2020)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • London North GLH
    • NHS GMS
    Phenotypes
    • Lymphoedema-distichiasis syndrome, OMIM:153400
    Tags
    • Q1_24_demote_red
    • Q1_24_expert_review
    No list FOXC2 in Monogenic diabetes


    Version 2.57
    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 1.175

    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 young onset end-stage renal disease


    Version 3.40
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Renal superpanel - broad

    		•  review Unknown
    Sources
    • Expert Review Red
    Green FOXC2 in Fetal anomalies


    Version 3.155
    Latest signed off version: v3.0 (22 Mar 2023)

    		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 3.87
    Latest signed off version: v3.1 (22 Mar 2023)

    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 4.108
    Latest signed off version: v4.0 (22 Mar 2023)

    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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  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 3.11
    Latest signed off version: v3.0 (30 Nov 2022)

    		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 1.184

    		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