1. Genes and Genomic Entities
  2. DNAJC3

DNAJC3

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

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green DNAJC3 in Ataxia and cerebellar anomalies - narrow panel


Level 2: Neurology
Version 8.63
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, OMIM:616192
    Green DNAJC3 in Familial diabetes

    Level 3: Disorders of unusual phenotypes
    Level 2: Endocrine disorders
    Version 1.68

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • ?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192
    Green DNAJC3 in Monogenic diabetes


    Level 2: Endocrinology
    Version 3.8
    Latest signed off version: v3.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • ?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, OMIM:616192
    • juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome, MONDO:0014523
    Green DNAJC3 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.506

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • London North GLH
    Phenotypes
    • Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192
    • Cerebellar ataxia, neuropathy with SNCV, hearing loss, diabetes mellitus
    Green DNAJC3 in Monogenic hearing loss


    Level 2: Audiology
    Version 5.57
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, OMIM:616192
    Red DNAJC3 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review Not set
    Sources
    • Victorian Clinical Genetics Services
    Green DNAJC3 in Hereditary neuropathy or pain disorder


    Level 2: Neurology
    Version 7.36
    Latest signed off version: v7.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London North GLH
    • NHS GMS
    • NHS GMS
    • London North GLH
    Phenotypes
    • Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, OMIM:616192