OTOF

otoferlin
OMIM: 603681, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green OTOF in ClinGen Gene Validity Curations


Version 0.65

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • Sensorineural Hearing Loss (Auditory Neuropathy)
  • OrphaNet 90636
  • OMIM 601071
Green OTOF in Auditory Neuropathy Spectrum Disorde

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • 601071
Green OTOF in Monogenic hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.41
Latest signed off version: v4.39 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Nonsyndromic Hearing Loss, Recessive
    • Deafness, autosomal recessive 9, 601071
    • hearing loss
    • Auditory neuropathy, autosomal recessive, 1, 601071
    Green OTOF in Severe Paediatric Disorders


    Version 1.184

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Deafness, autosomal recessive 9, 601071
    • Auditory neuropathy, autosomal recessive, 1, 601071