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  3. DNAJC5
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Early onset or syndromic epilepsy

Gene: DNAJC5

Amber List (moderate evidence)
DNAJC5 (DnaJ heat shock protein family (Hsp40) member C5)
EnsemblGeneIds (GRCh38): ENSG00000101152
EnsemblGeneIds (GRCh37): ENSG00000101152
OMIM: 611203, Gene2Phenotype
DNAJC5 is in 12 panels

1 review

Rebecca Foulger (Genomics England curator)

As discussed with members of the GMS Neurology Specialist Test Group on the Webex call 22nd November 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that there is insufficient evidence to rate this gene Green. Seizures present later. Demoted from Green to Amber.
Created: 25 Nov 2019, 9:16 p.m. | Last Modified: 25 Nov 2019, 9:16 p.m.
Panel Version: 1.464
Comment on list classification: Added to panel as a Green gene as seizures are a symptom of the metabolic disorder, and sufficient epilepsy cases from literature.
Created: 7 Nov 2019, 10:43 a.m. | Last Modified: 7 Nov 2019, 10:43 a.m.
Panel Version: 1.400
PMID:22235333: Velinov et al., 2012. The authors previously described the Parry family in the 1970s. All affected individuals from the family had a history of progressive seizure disorder. They identified a pLeu116del variant in DNAJC5 which segregated with the disease. 8 additional families were studied for this paper, with seizures amongst the phenotypes. In one affected individual, pLeu115Arg was identified (proband BD-319) who had seizures and gradual dementia beginning in the mid 30s.
Created: 7 Nov 2019, 10:28 a.m. | Last Modified: 7 Nov 2019, 10:28 a.m.
Panel Version: 1.399
PMID:29506599: Jarrett et al., 2018 report a family with Kufs disease in which the proband and 3/4 children presented with cognitive impariment, seizures and myoclonus. Genetic testing of all four children was positive for a c.346_348delCTC(p.L116del) variant in the DNAJC5 gene. EEG on the asymptomatic fourth child showed moderatley severe slowing. The proband's father was deceased but had a history of epileptic seizures.
Created: 7 Nov 2019, 10:28 a.m. | Last Modified: 7 Nov 2019, 10:28 a.m.
Panel Version: 1.399
PMID:22978711: Cadieux-Dion et al., 2013. report a p.L116del variant in DNAJC5 in two distinct American families, and a p.L115R variant in an additional family. All individuals showed generalized tonic-clonic seizures.
Created: 7 Nov 2019, 10:27 a.m. | Last Modified: 7 Nov 2019, 10:27 a.m.
Panel Version: 1.399
Added DNAJC5 to the Epilepsy panel based on a Green rating on the 'Inborn errors of metabolism' panel: seizures are listed as a symptom of MIM:162350 in OMIM.
Sources: Literature, Other
Created: 7 Nov 2019, 10:27 a.m.

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

Phenotypes
Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350; autosomal dominant Kufs disease; generalized tonic–clonic seizures

Publications

Created: 7 Nov 2019, 10:27 a.m.
Last Modified: 25 Nov 2019, 9:16 p.m.
Panel version: 1.464

History Filter Activity

25 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: dnajc5 has been classified as Amber List (Moderate Evidence).

7 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: dnajc5 has been classified as Green List (High Evidence).

7 Nov 2019, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: DNAJC5 was added gene: DNAJC5 was added to Genetic epilepsy syndromes. Sources: Literature,Other Mode of inheritance for gene: DNAJC5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DNAJC5 were set to 22978711; 29506599; 22235333 Phenotypes for gene: DNAJC5 were set to Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350; autosomal dominant Kufs disease; generalized tonic–clonic seizures