DNAJC3

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

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green DNAJC3 in Familial diabetes

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.66

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 2.50
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

Amber DNAJC3 in Hereditary neuropathy

Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.454

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • 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

Red DNAJC3 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1677
Latest signed off version: v3.2 (13 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review Not set
    Sources
    • Victorian Clinical Genetics Services

    Amber DNAJC3 in Hereditary neuropathy NOT PMP22 copy number


    Version 1.103
    Latest signed off version: v1.36 (5 Aug 2021)

    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