FOXC1

forkhead box C1
OMIM: 601090, Gene2Phenotype

16 panels

Panel Reviews Mode of inheritance Details
16 panels

Green FOXC1 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.12

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Axenfeld-Rieger syndrome, type 3 602482
  • Anterior segment dysgenesis 3, multiple subtypes 601631

Green FOXC1 in Familial cerebral small vessel disease

Level 3: Arteriopathies
Level 2: Cardiovascular disorders
Version 1.10

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Expert list
  • Literature
Phenotypes
  • Stroke
  • Dandy Walker Syndrome
  • Hearing Impairment
  • Axenfeld-Rieger syndrome, type 3, Rieger or Axenfeld anomalies 602482
  • Iridogoniodysgenesis, type 1, Iris hypoplasia and glaucoma 601631

Red FOXC1 in Cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.68
Signed off v.2.2 on 19 Feb 2020

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Axenfeld-Rieger syndrome type 3

Green FOXC1 in Aniridia


Version 2.14
Signed off v.2.5 on 15 Oct 2020

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Aniridia, MONDO:0019172

Red FOXC1 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 list
    • Expert Review Red

    Red FOXC1 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.87
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Expert list

    Red FOXC1 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 FOXC1 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 FOXC1 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
    • IRIDOGONIODYSGENESIS ANOMALY
    • AXENFELD-RIEGER SYNDROME TYPE 3
    • PETERS ANOMALY

    Green FOXC1 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
    • IRIDOGONIODYSGENESIS ANOMALY 601631
    • AXENFELD-RIEGER SYNDROME TYPE 3 602482
    • PETERS ANOMALY 604229

    Red FOXC1 in Hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 2.160
    Signed off v.2.5 on 13 Feb 2020

    review Not set
    Sources
    • Emory Genetics Laboratory
    Phenotypes
    • hearing loss

    Green FOXC1 in Anophthalmia or microphthalmia

    Level 3: Ocular malformations
    Level 2: Ophthalmological disorders
    Version 1.38

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory

    Red FOXC1 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
    • Iridogoniodysgenesis, type 1, 601631
    • Rieger or Axenfeld
    • anomalies, 602482
    • Axenfeld-Rieger syndrome, type 3, 602482
    • Iris hypoplasia and glaucoma, 601631

    Red FOXC1 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.177
    Signed off v.2.7 on 25 Feb 2020

    review Not set
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Eye Disorders

    Green FOXC1 in Structural eye disease


    Version 1.56
    Signed off v.1.3 on 4 Mar 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Axenfeld-Rieger syndrome, type 3 602482
    • Anterior segment dysgenesis 3, multiple subtypes 601631

    Green FOXC1 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
    • Anterior segment dysgenesis 3, multiple subtypes, 601631
    • Axenfeld-Rieger syndrome, type 3, 602482