DNAJC30

DnaJ heat shock protein family (Hsp40) member C30
Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green DNAJC30 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Leber Hereditary Optic Neuropathy, MIM#619382

Green DNAJC30 in Optic Atrophy


Level 2: Ophthalmological disorders
Version 1.32

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Leber Hereditary Optic Neuropathy, MIM#619382

    Green DNAJC30 in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.927

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Leber Hereditary Optic Neuropathy, MIM#619382