PanelApp
  1. Genes and Genomic Entities
  2. FOXC1

FOXC1

forkhead box C1
OMIM: 601090, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Green FOXC1 in Eye Anterior Segment Abnormalities


Level 2: Ophthalmological disorders
Version 1.15

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Anterior segment dysgenesis 3, multiple subtypes, MIM# 601631
  • Axenfeld-Rieger syndrome, type 3, MIM# 602482

Amber FOXC1 in Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic


Level 2: Renal and urinary tract disorders
Version 0.127

Component of the following Super Panels:

  • Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel
  • Kidneyome_SuperPanel

    		•  3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review Amber
    • Literature
    • Victorian Clinical Genetics Services
    Phenotypes
    • Congenital anomalies of the kidney and urinary tract (CAKUT)

    Amber FOXC1 in Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic


    Level 2: Renal and urinary tract disorders
    Version 0.159

    Component of the following Super Panels:

  • Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel
  • Kidneyome_SuperPanel

    		•  3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Congenital anomalies of the kidney and urinary tract (CAKUT)

    Green FOXC1 in Congenital Heart Defect


    Level 2: Cardiovascular disorders
    Version 0.474

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green FOXC1 in Glaucoma congenital


    Level 2: Ophthalmological disorders
    Version 1.9

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Axenfeld-Rieger syndrome, type 3, MIM# 602482

    Red FOXC1 in Joubert syndrome and other neurological ciliopathies


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.31

    		1 review Unknown
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services

    Green FOXC1 in Mendeliome


    Version 1.3512

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Axenfeld-Rieger syndrome, type 3, MIM# 602482

    Red FOXC1 in Renal Ciliopathies and Nephronophthisis


    Level 2: Renal and urinary tract disorders
    Version 1.45

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Cystic Disease_SuperPanel

    		•  2 reviews Unknown
    Sources
    • Expert Review Red
    • Expert Review Red
    • KidGen_CilioNephronop v38.1.0
    • Victorian Clinical Genetics Services
    Phenotypes
    • Axenfeld-Rieger syndrome, type 3, MIM#602482

    Green FOXC1 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.565

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Red FOXC1 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.346

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Expert list
    • Expert Review Red
    • UKGTN
    • Victorian Clinical Genetics Services

    Green FOXC1 in Stroke


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.28

    		3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review Green
    • Literature
    • Victorian Clinical Genetics Services
    Phenotypes
    • Stroke
    • cerebral small-vessel disease

    Green FOXC1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Axenfeld-Rieger syndrome

    Green FOXC1 in Fetal anomalies


    Version 1.465

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Axenfeld-Rieger syndrome, type 3, MIM# 602482

    Red FOXC1 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Axenfeld-Rieger syndrome, type 3, MIM# 602482