ClinGen Gene Validity Curations

Gene: OTOF

Green List (high evidence)

OTOF (otoferlin)
EnsemblGeneIds (GRCh38): ENSG00000115155
EnsemblGeneIds (GRCh37): ENSG00000115155
OMIM: 603681, Gene2Phenotype
OTOF is in 3 panels

1 review

Ellen McDonagh (Genomics England Curator)

This gene and information sourced from the ClinGen Gene Validity Curations. For the full report and publications, see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity.
Created: 23 Jun 2017, 11:51 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • Sensorineural Hearing Loss (Auditory Neuropathy)
  • OrphaNet 90636
  • OMIM 601071
OMIM
603681
Clinvar variants
Variants in OTOF
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Jun 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

OTOF was added to ClinGen Gene Validity Curationspanel. Source: Expert Review Green

20 Jun 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

OTOF was added to ClinGen Gene Validity Curationspanel. Sources: ClinGen

20 Jun 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

OTOF was created by ellenmcdonagh