Deafness and congenital structural abnormalities
Gene: FOXI1EnsemblGeneIds (GRCh38): ENSG00000168269
EnsemblGeneIds (GRCh37): ENSG00000168269
OMIM: 601093, Gene2Phenotype
FOXI1 is in 3 panels
2 reviews
Muriel Holder (Clinical Genetics, Guy's Hospital)
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
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
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.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for FOXI1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Upload gene information
Ellen McDonagh (Genomics England Curator)FOXI1 was added to Deafness and congenital structural abnormalitiespanel. Sources: Radboud University Medical Center, Nijmegen
clearsources
Ellen McDonagh (Genomics England Curator)FOXI1All sources for gene: FOXI1 were removed
Created
Sarah Leigh (Genomics England Curator)FOXI1 was created by sleigh
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