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  3. OTOF
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Auditory Neuropathy

Gene: OTOF

Green List (high evidence)
OTOF (otoferlin)
EnsemblGeneIds (GRCh38): ENSG00000115155
EnsemblGeneIds (GRCh37): ENSG00000115155
OMIM: 603681, Gene2Phenotype
OTOF is in 6 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 16371502; 6 families with non-syndromic recessive hearing loss (NSRHL) or non-syndromic recessive auditory neuropathy (NSRAN)

PMID: 22906306: Summary of 92 previously reported variants in OTOF in patients with hearing loss
Created: 24 Feb 2020, 2:57 a.m. | Last Modified: 24 Feb 2020, 2:57 a.m.
Panel Version: 0.313

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Auditory neuropathy, autosomal recessive, 1 (MIM # 601071); Deafness, autosomal recessive 9 (MIM # 601071

Publications

Created: 24 Feb 2020, 2:57 a.m.
Last Modified: 24 Feb 2020, 2:57 a.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.313

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Auditory neuropathy, autosomal recessive, 1 MIM#601071
  • non-syndromic auditory neuropathy spectrum disorder
OMIM
603681
Clinvar variants
Variants in OTOF
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Nov 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: OTOF was added gene: OTOF was added to Auditory Neuropathy. Sources: Literature,Expert Review Green Mode of inheritance for gene: OTOF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OTOF were set to 21176974 Phenotypes for gene: OTOF were set to Auditory neuropathy, autosomal recessive, 1 MIM#601071; non-syndromic auditory neuropathy spectrum disorder