1. Genes and Genomic Entities
  2. DIABLO

DIABLO

diablo IAP-binding mitochondrial protein
OMIM: 605219, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber DIABLO in Monogenic hearing loss


Level 2: Audiology
Version 5.57
Latest signed off version: v5.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Expert
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • UKGTN
    Phenotypes
    • hearing loss
    • #614152:Deafness, autosomal dominant 64
    Red DIABLO in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 9.41
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review Not set
    Sources
    • Expert list
    Phenotypes
    • Deafness, autosomal dominant 64 614152