1. Panels
  2. Monogenic Diabetes
  3. DNAJC3
STRs in panel
Prev Next
Regions in panel
Prev Next

Monogenic Diabetes

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

Hali Van Niel (University of Melbourne)

Green List (high evidence)

Well established gene disease association for juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome (also know as Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus).
Created: 2 May 2024, 1:28 a.m. | Last Modified: 2 May 2024, 1:28 a.m.
Panel Version: 0.58

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome MONDO:0014523

Publications

Created: 2 May 2024, 1:28 a.m.
Last Modified: 2 May 2024, 1:28 a.m.
Panel version: 0.58

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome MONDO:0014523
OMIM
601184
Clinvar variants
Variants in DNAJC3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 May 2024, 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).

2 May 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DNAJC3 were changed from Autosomal recessive juvenile-onset diabetes with central and peripheral neurodegeneration; ?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192 to juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome MONDO:0014523

2 May 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DNAJC3 were set to

17 Jan 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DNAJC3 was added gene: DNAJC3 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: DNAJC3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAJC3 were set to Autosomal recessive juvenile-onset diabetes with central and peripheral neurodegeneration; ?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192