OTOF

otoferlin
OMIM: 603681, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green OTOF in ClinGen Gene Validity Curations


Version 0.64

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 Hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 2.247
Latest signed off version: v2.5 (13 Feb 2020)

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 1.127

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