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Deafness_IsolatedAndComplex

Gene: FOXF2

Amber List (moderate evidence)

FOXF2 (forkhead box F2)
EnsemblGeneIds (GRCh38): ENSG00000137273
EnsemblGeneIds (GRCh37): ENSG00000137273
OMIM: 603250, Gene2Phenotype
FOXF2 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; 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: 24 Apr 2020, 2:17 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
  • Literature
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

24 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

24 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

24 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FOXF2 was added gene: FOXF2 was added to Deafness. 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