PanelApp
  1. Genes and Genomic Entities
  2. DNAJC3

DNAJC3

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

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green DNAJC3 in Mendeliome


Version 1.4851

1 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

Green DNAJC3 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 1.361

2 reviews 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 1.780

1 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 Ataxia


Level 2: Neurology and neurodevelopmental disorders
Version 1.203

Component of the following Super Panels:

  • Movement Disorders Superpanel
  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions

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

    Green DNAJC3 in Hereditary Neuropathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.190

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 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 0.224

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

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

    Green DNAJC3 in Congenital hypothyroidism

    Level 3: Thyroid disorders
    Level 2: Endocrine disorders
    Version 0.120

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