FOXI1

forkhead box I1
OMIM: 601093, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red FOXI1 in Deafness and congenital structural abnormalities

Level 3: Deafness and congenital structural abnormalities
Level 2: Hearing and ear disorders
Version 1.17

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Enlarged vestibular aqueduct, 600791

Red FOXI1 in Hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 2.37
Signed off v.2.5 on 13 Feb 2020

review 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

Amber FOXI1 in Renal tubulopathies

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 2.13
Signed off v.2.2 on 19 Feb 2020

Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Amber
    • Literature
    • Expert Review
    Phenotypes
    • deafness
    • renal tubular acidosis
    • Early onset sensorinerual deafness and distal renal tubular acidosis (no OMIM number)
    • Enlarged vestibular aqueducts, 6007910