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Hearing loss

Gene: FOXF2

Amber List (moderate evidence)

FOXF2 (forkhead box F2)
EnsemblGeneIds (GRCh38): ENSG00000137273
EnsemblGeneIds (GRCh37): ENSG00000137273
OMIM: 603250, Gene2Phenotype
FOXF2 is in 2 panels

2 reviews

Eleanor Williams (Genomics England Curator)

I don't know

Comment on list classification: Promoting this gene from grey to amber. 1 case reported with segregation of the variants, plus some mouse model evidence.
Created: 20 Sep 2020, 9:32 a.m. | Last Modified: 20 Sep 2020, 9:32 a.m.
Panel Version: 2.92
Not associated with a disease phenotype in OMIM.

PMID: 30561639 - Bademci et al 2019 - report a Turkish family with a 10 year old proband with congenital profound SNHL. The parents are first degree cousins with normal hearing. The proband has incomplete partition type I anomaly of the cochlea. Through WES a homozygous variant c.325A>T (p.I109F) in FOXF2 was identified. The parents are both heterozygous for this variant and the unaffected sister homozygous for the wild type allele. The variant was not seen in 1042 Turkish control individuals. A mouse knockout of Foxf2 shows shortened and malformed cochleae, in addition to altered shape of hair cells with innervation and planar cell polarity defects.

PMID: 22022403 - McKeone et al 2011 - look at mice with 5 sequence variants in the Foxf2 genomic DNA and provide evidence that it is a locus for anterior segment dysgenesis, and is essential for normal ciliary body formation.
Created: 20 Sep 2020, 9:31 a.m. | Last Modified: 20 Sep 2020, 9:31 a.m.
Panel Version: 2.91

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
sensorineural hearing loss (SNHL)

Publications

Zornitza Stark (Australian Genomics)

I don't know

Single family: variant has functional data to demonstrate effect on protein, plus mouse model supports gene-disease association.
Sources: Literature
Created: 2 May 2020, 2:22 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
profound sensorineural hearing loss (SNHL); cochlea malformations; incomplete partition type I anomaly of the cochlea

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • profound sensorineural hearing loss (SNHL)
  • cochlea malformations
  • incomplete partition type I anomaly of the cochlea
OMIM
603250
Clinvar variants
Variants in FOXF2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: foxf2 has been classified as Amber List (Moderate Evidence).

2 May 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: FOXF2 was added gene: FOXF2 was added to Hearing loss. Sources: Literature Mode of inheritance for gene: FOXF2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FOXF2 were set to 30561639; 22022403 Phenotypes for gene: FOXF2 were set to profound sensorineural hearing loss (SNHL); cochlea malformations; incomplete partition type I anomaly of the cochlea Review for gene: FOXF2 was set to AMBER