Genomics England
GMS Panels
Panels
Genes and Entities

CCDC50

coiled-coil domain containing 50
OMIM: 611051
PanelMode of inheritanceDetails
1 panel
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.42
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Deafness, autosomal dominant 44, 607453, hearing loss, #607453:?Deafness, autosomal dominant 44