Deafness and congenital structural abnormalities

Gene: FOXI1

Red List (low evidence)

FOXI1 (forkhead box I1)
EnsemblGeneIds (GRCh38): ENSG00000168269
EnsemblGeneIds (GRCh37): ENSG00000168269
OMIM: 601093, Gene2Phenotype
FOXI1 is in 3 panels

2 reviews

Muriel Holder (Clinical Genetics, Guy's Hospital)

I don't know

Possibly linked with deafness although not much evidence
Created: 17 Oct 2016, 12:46 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Mode of pathogenicity
Other

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Two families reported in OMIM with OMIM 600791 phenotype and a heterozygous variants reported in this gene, and SLC26A4 was reported as wild-type (PMID:17503324). Another case was reported as digenic, heterozygous for a variant in SLC26A4 and heterozygous for a variant in FOXI1.
Created: 14 Oct 2016, 12:07 p.m.

Mode of inheritance
Unknown

Phenotypes
Enlarged vestibular aqueduct, 600791

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Enlarged vestibular aqueduct, 600791
OMIM
601093
Clinvar variants
Variants in FOXI1
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.

14 Oct 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

14 Oct 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for FOXI1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

14 Oct 2016, Gel status: 1

Upload gene information

Ellen McDonagh (Genomics England Curator)

FOXI1 was added to Deafness and congenital structural abnormalitiespanel. Sources: Radboud University Medical Center, Nijmegen

14 Oct 2016, Gel status: 2

clearsources

Ellen McDonagh (Genomics England Curator)

FOXI1All sources for gene: FOXI1 were removed

5 Oct 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

FOXI1 was created by sleigh

5 Oct 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

FOXI1 was added to Deafness and congenital structural abnormalitiespanel. Sources: Radboud University Medical Center, Nijmegen,Expert Review Amber