Genomics England
GMS Panels
Panels
Genes and Entities

OTOF

otoferlin
OMIM: 603681
PanelMode of inheritanceDetails
1 panel
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.57
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nonsyndromic Hearing Loss, Recessive, Deafness, autosomal recessive 9, 601071, hearing loss, Auditory neuropathy, autosomal recessive, 1, 601071