1. Genes and Genomic Entities
  2. FOXC2

FOXC2

forkhead box C2
OMIM: 602402, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels
Green FOXC2 in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.95

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 1.68

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


Level 2: Dermatology
Version 4.16
Latest signed off version: v4.0 (30 Apr 2025)

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 1.124

review Not set
Sources
  • Expert list
  • Expert Review Red
Green FOXC2 in Vascular skin disorders


Level 2: Dermatology
Version 2.5
Latest signed off version: v2.0 (30 Apr 2025)

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


Level 2: Endocrinology
Version 3.10
Latest signed off version: v3.0 (30 Apr 2025)

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 1.181

review Not set
Sources
  • Expert Review Red
  • Expert list
Green FOXC2 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

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 6.424
Latest signed off version: v6.0 (30 Apr 2025)

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 2: Musculoskeletal
    Version 6.20
    Latest signed off version: v6.5 (30 Apr 2025)

    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 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    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 2: Cardiology
    Version 4.21
    Latest signed off version: v4.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • London South GLH
    • Eligibility statement prior genetic testing
    • Expert Review Green
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Lymphedema-distichiasis syndrome, 153400
    • Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400
    Red FOXC2 in Unexplained young onset end-stage renal disease - additional genes


    Level 2: Renal
    Version 1.4
    Latest signed off version: v1.1 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease

    		•  review Unknown
    Sources
    • Expert Review Red