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  2. Auditory Neuropathy Spectrum Disorde
  3. OTOF
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Auditory Neuropathy Spectrum Disorde

Gene: OTOF

Green List (high evidence)
OTOF (otoferlin)
EnsemblGeneIds (GRCh38): ENSG00000115155
EnsemblGeneIds (GRCh37): ENSG00000115155
OMIM: 603681, Gene2Phenotype
OTOF is in 2 panels

1 review

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • 601071
OMIM
603681
Clinvar variants
Variants in OTOF
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 May 2016, Gel status: 4

Set publications

Richard Scott (Genomics England Curator)

Publications for OTOF were set to 10192385

10 May 2016, Gel status: 4

Set Phenotypes

Richard Scott (Genomics England Curator)

Phenotypes for OTOF were set to 601071

10 May 2016, Gel status: 4

Set Mode of Inheritance

Richard Scott (Genomics England Curator)

Mode of inheritance for OTOF was changed to BIALLELIC, autosomal or pseudoautosomal

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Jul 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

OTOF was added to Auditory Neuropathy Spectrum Disorder panel. Sources: Radboud University Medical Center, Nijmegen