FOXC1

forkhead box C1
OMIM: 601090, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Green FOXC1 in Glaucoma (developmental) Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.45	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS 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 1.17	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 Bilateral congenital or childhood onset cataracts Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 4.12 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red UKGTN Phenotypes Axenfeld-Rieger syndrome type 3
Green FOXC1 in Sporadic aniridia Version 3.5 Latest signed off version: v3.2 (22 Mar 2023)	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 1.118 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 4.56 Latest signed off version: v4.0 (22 Mar 2023) 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 1.175 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 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 FOXC1 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 IRIDOGONIODYSGENESIS ANOMALY AXENFELD-RIEGER SYNDROME TYPE 3 PETERS ANOMALY
Green FOXC1 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 IRIDOGONIODYSGENESIS ANOMALY 601631 AXENFELD-RIEGER SYNDROME TYPE 3 602482 PETERS ANOMALY 604229
Red FOXC1 in Monogenic hearing loss Level 3: Non-syndromic hearing loss Level 2: Hearing and ear disorders Version 4.37 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	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 1.51	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Emory Genetics Laboratory
Red FOXC1 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 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 4.89 Latest signed off version: v4.0 (22 Mar 2023)	review	Not set	Sources NHS GMS Expert Review Red Phenotypes Eye Disorders
Green FOXC1 in Structural eye disease Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	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 1.184	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