CCDC50

coiled-coil domain containing 50
OMIM: 611051, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green CCDC50 in Monogenic hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.38
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert
    • UKGTN
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Deafness, autosomal dominant 44, 607453
    • hearing loss
    • #607453:?Deafness, autosomal dominant 44