DNAJC3

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

7 panels

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


Version 4.56
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, OMIM:616192
    Tags
    • Q3_23_promote_green
    Green DNAJC3 in Familial diabetes

    Level 3: Disorders of unusual phenotypes
    Level 2: Endocrine disorders
    Version 1.67

    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


    Version 2.54
    Latest signed off version: v2.2 (25 Feb 2020)

    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 1.476

    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
    Amber DNAJC3 in Monogenic hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 4.25
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, OMIM:616192
    Tags
    • Q3_23_promote_green
    Red DNAJC3 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.453
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review Not set
    Sources
    • Victorian Clinical Genetics Services
    Amber DNAJC3 in Hereditary neuropathy or pain disorder


    Version 3.83
    Latest signed off version: v3.24 (15 May 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • London North GLH
    • NHS GMS
    • NHS GMS
    • London North GLH
    Phenotypes
    • Cerebellar ataxia, neuropathy with SNCV, hearing loss, diabetes mellitus
    • Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192
    Tags
    • Q3_23_promote_green