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 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.41
Latest signed off version: v4.39 (1 May 2024)

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 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 6.4
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

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