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Hereditary Neuropathy - complex

Gene: DNAJC3

Green List (high evidence)
DNAJC3 (DnaJ heat shock protein family (Hsp40) member C3)
EnsemblGeneIds (GRCh38): ENSG00000102580
EnsemblGeneIds (GRCh37): ENSG00000102580
OMIM: 601184, Gene2Phenotype
DNAJC3 is in 4 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Multiple individuals (>5) from unrelated families having ataxia like phenotypes with demyelinating sensorimotor peripheral neuropathy.

All individuals either had a homozygous or compound heterozygous mutation present in DNAJC3.
Created: 14 Jun 2023, 5:39 a.m. | Last Modified: 14 Jun 2023, 5:39 a.m.
Panel Version: 0.166

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, MIM# 616192

Publications

Created: 14 Jun 2023, 5:39 a.m.
Last Modified: 14 Jun 2023, 5:39 a.m.
Panel version: 0.166

Details

Mode of Inheritance
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
OMIM
601184
Clinvar variants
Variants in DNAJC3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Jul 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dnajc3 has been classified as Green List (High Evidence).

10 Jul 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DNAJC3 were changed from Cerebellar ataxia, neuropathy with SNCV, hearing loss, diabetes mellitus to Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, MIM# 616192

10 Jul 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DNAJC3 were set to 25466870

13 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: DNAJC3 was added gene: DNAJC3 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: DNAJC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJC3 were set to 25466870 Phenotypes for gene: DNAJC3 were set to Cerebellar ataxia, neuropathy with SNCV, hearing loss, diabetes mellitus