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Hearing loss

Gene: FOXI1

Red List (low evidence)

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

3 reviews

Ellen McDonagh (Genomics England Curator)

A new publication reporting on three families with early-onset sensorineural deafness and distal renal tubular acidosis.
Created: 19 Sep 2018, 3:44 p.m.
Comment on mode of inheritance: See PMID: 29242249
Created: 19 Sep 2018, 3:43 p.m.
Comment on mode of inheritance: PMID: 17503324 reports heterozygous mutations identified in patients with Pendred syndrome (PS) and nonsyndromic hearing loss associated with enlarged vestibular aqueduct (EVA).
Created: 17 Feb 2016, 3:07 p.m.
Comment on list classification: Expert review suggests that this gene should be demoted from red to green as the evidence is not enough at this current time (only PMID: 17503324). Also seems to be a digenic mode of inheritance with mutations in the SLC26A4 gene.
Created: 17 Feb 2016, 2:57 p.m.

Jun Shen (Harvard Medical School)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#600791:Enlarged vestibular aqueduct[Hearing loss, sensorineuralVestibular abnormalities (variable)Enlarged vestibular aqueductCochlear malformation defect (Mondini dysplasia) (less common)]

Publications

Maria Bitner-Glindzicz (UCL)

Red List (low evidence)

Very few convincing mutations
Created: 13 Oct 2015, 8:34 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Nonsyndromic Hearing Loss, Mixed
  • #600791:Enlarged vestibular aqueduct
  • hearing loss
OMIM
601093
Clinvar variants
Variants in FOXI1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

19 Sep 2018, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: FOXI1 were set to PMID:12642503; 15173882; 16932748; 17503324; 7957066; 8825632; 9843211

19 Sep 2018, Gel status: 1

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene: FOXI1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal

17 Feb 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).

17 Feb 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for FOXI1 were set to Nonsyndromic Hearing Loss, Mixed; #600791:Enlarged vestibular aqueduct; hearing loss

17 Feb 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

17 Feb 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).

17 Feb 2016, Gel status: 3

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for FOXI1 were set to PMID:12642503; 15173882; 16932748; 17503324; 7957066; 8825632; 9843211

24 Jun 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene FOXI1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jun 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

FOXI1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene FOXI1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jun 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

FOXI1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene FOXI1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

FOXI1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FOXI1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert