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Newborns main panel

Gene: OTOF

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: VCEP - a ClinGen Variant Review Expert Panel (VCEP) has produced specifications to the ACMP/AMP variant interpretation guidelines for this gene.

Additional Information: Link to Hearing Loss Variant Curation Expert Panel (VCEP) - https://www.clinicalgenome.org/affiliation/50007/
Created: 26 Sep 2024, 3:54 p.m. | Last Modified: 26 Sep 2024, 3:54 p.m.
Panel Version: 0.469
Created: 26 Sep 2024, 3:54 p.m.
Last Modified: 26 Sep 2024, 3:54 p.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
OTOF curation results (clinicalgenome.org)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Auditory neuropathy, autosomal recessive, 1
Tags
special_consideration
OMIM
603681
Clinvar variants
Variants in OTOF
Penetrance
None
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: OTOF.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Auditory neuropathy, autosomal recessive, 1 for gene: OTOF

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Auditory neuropathy, autosomal recessive, 1 for gene: OTOF

31 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to OTOF. Added phenotypes Auditory neuropathy, autosomal recessive, 1 for gene: OTOF Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to OTOF. Rating Changed from Green List (high evidence) to No List (delete)

9 Mar 2023, Gel status: 3

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

Mafalda Gomes (Genomics England Curator)

gene: OTOF was added gene: OTOF was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: OTOF was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OTOF were set to Auditory neuropathy, autosomal recessive, 1