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  3. DNAJC13
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Adult onset neurodegenerative disorder

Gene: DNAJC13

Amber List (moderate evidence)
DNAJC13 (DnaJ heat shock protein family (Hsp40) member C13)
EnsemblGeneIds (GRCh38): ENSG00000138246
EnsemblGeneIds (GRCh37): ENSG00000138246
OMIM: 614334, Gene2Phenotype
DNAJC13 is in 1 panel

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Created: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.
Panel Version: 1.106
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Created: 23 Jul 2019, 3:51 p.m.
Last Modified: 23 Jul 2019, 3:51 p.m.
Panel version: 1.106

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

I don't know

Association with Parkinson disease not clear.
Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 23 Jul 2019, 3:35 p.m.
Last Modified: 23 Jul 2019, 3:35 p.m.
Panel version: 1.72

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review Amber
OMIM
614334
Clinvar variants
Variants in DNAJC13
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Jul 2019, Gel status: 2

Set mode of inheritance, Set publications

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene DNAJC13 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene DNAJC13 were changed from to 24218364; 25186792; 30537300

23 Jul 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to DNAJC13.

23 Jul 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to DNAJC13.

23 Jul 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: DNAJC13 was added gene: DNAJC13 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber Mode of inheritance for gene: DNAJC13 was set to