Deafness and congenital structural abnormalities

Gene: FOXI3

Red List (low evidence)

FOXI3 (forkhead box I3)
EnsemblGeneIds (GRCh38): ENSG00000214336
EnsemblGeneIds (GRCh37): ENSG00000214336
OMIM: 612351, Gene2Phenotype
FOXI3 is in 1 panel

6 reviews

Muriel Holder (Clinical Genetics, Guy's Hospital)

I don't know

Not enough clinical evidence at this stage
Created: 17 Oct 2016, 12:39 p.m.

Mode of inheritance
Unknown

Mode of pathogenicity
Other

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Not associated with phenotype in OMIM nor G2P / DD. One 2.5Mb interstitial deletion of the short arm of chromosome 2 at band 2p11.2 found in child with congenital aural atresia associated with agenesis of iInternal carotid artery.
Created: 14 Sep 2016, 2:23 p.m.

Ana Beleza (Bristol Regional Genetics Service)

I don't know

Phenotypes
Congenital aural atresia

Publications

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Red on the Bilateral Microtia Version 1.10 panel.
Created: 12 Sep 2016, 2:57 p.m.

Jun Shen (Harvard Medical School)

Red List (low evidence)

FOXI3 is not associated with a phenotype entry in OMIM.
Created: 9 Feb 2016, 5:16 p.m.

Publications

Maria Bitner-Glindzicz (UCL)

Red List (low evidence)

Single report. Compelling animal and functional evidence only.
Created: 3 Feb 2016, 5:03 p.m.

Publications

Details

Mode of Inheritance
Unknown
Sources
  • Literature
  • Expert Review Red
  • Expert list
Phenotypes
  • Bilateral Microtia
  • Congenital aural atresia
OMIM
612351
Clinvar variants
Variants in FOXI3
Penetrance
Complete
Panels with this gene

History Filter Activity

26 Oct 2016, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

26th Oct 2016: the panels Bilateral microtia version 1.10, Ear malformations with hearing impairment version 0.105, and familial hemifacial microsomia version 0.149 gene panels were combined to create this panel. The panel was revised due to expert review, further curation of evidence and internal clinical evaluation. Ready for promotion to version 1.

5 Oct 2016, Gel status: 1

Set Mode of Inheritance, Added New Source

Sarah Leigh (Genomics England Curator)

FOXI3 was added to Deafness and congenital structural abnormalitiespanel. Source: Literature Model of inheritance for gene FOXI3 was set to Unknown

5 Oct 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

FOXI3 was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Expert Review Red

5 Oct 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

FOXI3 was created by sleigh