Genomics England
GMS Panels
Panels
Genes and Entities

OSBPL2

oxysterol binding protein like 2
OMIM: 606731
PanelMode of inheritanceDetails
1 panel
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.23
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
#616340: Deafness, autosomal dominant 67 [Hearing loss, sensorineural, mild to profound, Tinnitus at onset of high-frequency hearing loss, No vestibular symptoms]