1. Genes and Genomic Entities
  2. DIAPH3

DIAPH3

diaphanous related formin 3
OMIM: 614567, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber DIAPH3 in Auditory Neuropathy Spectrum Disorde

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 1.10

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Auditory neuropathy, autosomal dominant, 1, 609129
Amber DIAPH3 in Monogenic hearing loss


Level 2: Audiology
Version 6.42
Latest signed off version: v6.34 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Auditory neuropathy, autosomal dominant 1, OMIM:609129
    • autosomal dominant auditory neuropathy 1, MONDO:0012196
    Tags
    • Q3_26_promote_green