PanelApp (stage)
  1. Genes and Genomic Entities
  2. DNAJC3

DNAJC3

DnaJ heat shock protein family (Hsp40) member C3
OMIM: 601184, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green DNAJC3 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus - MIM#616192

Red DNAJC3 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, MIM# 616192

Green DNAJC3 in Hereditary Neuropathy - complex


Level 2: Neurology and neurodevelopmental disorders
Version 1.14

Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, MIM# 616192

    Green DNAJC3 in Monogenic Diabetes


    Level 2: Endocrine disorders
    Version 0.134

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome MONDO:0014523