Deafness_Isolated
Gene: OTOF

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
Victorian Clinical Genetics Services
Melbourne Genomics Health Alliance Deafness Flagship

Phenotypes

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

OMIM

603681

Clinvar variants

Variants in OTOF

Penetrance

None

Publications

Panels with this gene

History Filter Activity

3 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: otof has been classified as Green List (High Evidence).

21 Jul 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: OTOF was added gene: OTOF was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: OTOF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OTOF were set to 22906306; 16371502 Phenotypes for gene: OTOF were set to Auditory neuropathy, autosomal recessive, 1 (MIM # 601071); Deafness, autosomal recessive 9 (MIM # 601071

Deafness_Isolated Gene: OTOF