DNAJA3

DnaJ heat shock protein family (Hsp40) member A3
OMIM: 608382, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber DNAJA3 in Mendeliome


Version 1.4216

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Literature
Phenotypes
  • Mitochondrial disease, MONDO:0044970, DNAJA3-related

Amber DNAJA3 in Mitochondrial disease


Level 2: Metabolic disorders
Version 1.12

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Mitochondrial disease, MONDO:0044970, DNAJA3-related

    Amber DNAJA3 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.638

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    • Literature
    Phenotypes
    • Mitochondrial disease, MONDO:0044970, DNAJA3-related

    Amber DNAJA3 in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.53

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    • Literature
    • Literature
    • Literature
    Phenotypes
    • Mitochondrial disease, MONDO:0044970, DNAJA3-related