1. Panels
  2. Progressive Myoclonic Epilepsy
  3. DNAJC5
STRs in panel
Prev Next
Regions in panel
Prev Next

Progressive Myoclonic Epilepsy

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

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: ClinGen Epilepsy GCEP gene-disease curation: Moderate, >3 families reported. Classification - 07/30/2021
Created: 11 Nov 2021, 7:21 a.m. | Last Modified: 11 Nov 2021, 7:21 a.m.
Panel Version: 0.13
Created: 11 Nov 2021, 7:21 a.m.
Last Modified: 11 Nov 2021, 7:21 a.m.
Panel version: 0.13

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • autosomal dominant Kufs disease
  • generalized tonic clonic seizures
  • Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350
OMIM
611203
Clinvar variants
Variants in DNAJC5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

11 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

11 Nov 2021, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: DNAJC5 were set to

9 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: DNAJC5 was added gene: DNAJC5 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: DNAJC5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DNAJC5 were set to autosomal dominant Kufs disease; generalized tonic clonic seizures; Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350