Monogenic hearing loss
Gene: FOXC1EnsemblGeneIds (GRCh38): ENSG00000054598
EnsemblGeneIds (GRCh37): ENSG00000054598
OMIM: 601090, Gene2Phenotype
FOXC1 is in 15 panels
1 review
Jun Shen (Harvard Medical School)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
#601631:Iris hypoplasia and glaucoma[Iris stromal hypoplasiaDark iris colorAbsent iris stromal patternAbnormal iris vasculatureGoniodysgenesisJuvenile glaucomaIridocorneal angle maldevelopment; Cerebellar vermis hypoplasia (in some patients)Enlarged cisterna magna (in some patients); Caused by mutation in the forkhead, Drosophila, homolog-like 7 gene (FOXC1,)]; #602482:Rieger or Axenfeld anomalies[Flat midface; Hearing loss, sensorineural; Prominent eyesAnteriorly displaced eyesSchwalbe line (posterior embryotoxon)Iris strands attached to Schwalbe line bridging the iridocorneal angleIris hypoplasiaCorectopiaGlaucomaHypertelorism; Saddle nose; HypodontiaSmall teeth; Patent ductus arteriosusAtrial septal defectValvular defects; Umbilical defect (redundant periumbilical skin); Cerebellar vermis hypoplasia]
Publications
Details
- Sources
-
- Emory Genetics Laboratory
- Phenotypes
-
- hearing loss
- OMIM
- 601090
- Clinvar variants
- Variants in FOXC1
- Penetrance
- Complete
- Panels with this gene
-
- Unexplained kidney failure in young people
- DDG2P
- Bilateral congenital or childhood onset cataracts
- Retinal disorders
- Unexplained young onset end-stage renal disease - additional genes
- Sporadic aniridia
- Structural eye disease
- Monogenic hearing loss
- Skeletal dysplasia
- Fetal anomalies
- Familial cerebral small vessel disease
- Glaucoma (developmental)
- Anophthalmia or microphthalmia
- Intellectual disability
- CAKUT
History Filter Activity
Added New Source
Ellen McDonagh (Genomics England Curator)FOXC1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory