Deafness and congenital structural abnormalities
Gene: FOXI1
Possibly linked with deafness although not much evidenceCreated: 17 Oct 2016, 12:46 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of pathogenicity
Other
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
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.
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for FOXI1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
FOXI1 was added to Deafness and congenital structural abnormalitiespanel. Sources: Radboud University Medical Center, Nijmegen
FOXI1All sources for gene: FOXI1 were removed
FOXI1 was created by sleigh
FOXI1 was added to Deafness and congenital structural abnormalitiespanel. Sources: Radboud University Medical Center, Nijmegen,Expert Review Amber