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Hearing loss

Gene: FOXC1

Red List (low evidence)

FOXC1 (forkhead box C1)
EnsemblGeneIds (GRCh38): ENSG00000054598
EnsemblGeneIds (GRCh37): ENSG00000054598
OMIM: 601090, Gene2Phenotype
FOXC1 is in 17 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

History Filter Activity

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FOXC1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory