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Early-onset Dementia

Gene: DNAJC5

Green List (high evidence)
DNAJC5 (DnaJ heat shock protein family (Hsp40) member C5)
EnsemblGeneIds (GRCh38): ENSG00000101152
EnsemblGeneIds (GRCh37): ENSG00000101152
OMIM: 611203, Gene2Phenotype
DNAJC5 is in 10 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Moderate classification on ClinGen as of 30/01/2021

NCL is characterise by mental and motor deterioration, epilepsy, ataxia, vision loss, and a reduced life span. Dementia is a known feature of NCL and has been reported in >3 unrelated probands.
Created: 11 Aug 2023, 6:54 a.m. | Last Modified: 11 Aug 2023, 6:54 a.m.
Panel Version: 0.160

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

Phenotypes
Ceroid lipofuscinosis, neuronal, 4 (Kufs type), autosomal dominant (MIM#162350)

Publications

Created: 11 Aug 2023, 6:54 a.m.
Last Modified: 11 Aug 2023, 6:54 a.m.
Panel version: 0.160

Details

Mode of Inheritance
Unknown
Sources
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
OMIM
611203
Clinvar variants
Variants in DNAJC5
Penetrance
None
Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DNAJC5 was added gene: DNAJC5 was added to Early-onset Dementia_MGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: DNAJC5 was set to Unknown