1. Genes and Genomic Entities
  2. OTOF

OTOF

otoferlin
OMIM: 603681, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green OTOF in Auditory Neuropathy Spectrum Disorde

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 1.10

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


Level 2: Audiology
Version 5.57
Latest signed off version: v5.0 (30 Apr 2025)

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