Early onset dementia (encompassing fronto-temporal dementia and prion disease)
Gene: DNAJC5
DNAJC5 (DnaJ heat shock protein family (Hsp40) member C5)
EnsemblGeneIds (GRCh38): ENSG00000101152
EnsemblGeneIds (GRCh37): ENSG00000101152
OMIM: 611203, Gene2Phenotype
DNAJC5 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000101152
EnsemblGeneIds (GRCh37): ENSG00000101152
OMIM: 611203, Gene2Phenotype
DNAJC5 is in 12 panels
1 review
Sarah Leigh (Genomics England Curator)
Considered to be appropriate for this panel by Dr Arianna Tucci (Neurology, UCL). Associated with phenotype in OMIM, not in G2P / DD. At least 2 variants reported in at least 5 unrelated cases. Functional evidence also availableCreated: 6 Feb 2017, 12:48 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ceroid lipofuscinosis, neuronal, 4, Parry type 162350
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review
- Illumina TruGenome Clinical Sequencing Services
- Literature
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- UKGTN
- Phenotypes
-
- Ceroid lipofuscinosis, neuronal, 4, Parry type 162350
- OMIM
- 611203
- Clinvar variants
- Variants in DNAJC5
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Lysosomal storage disorder
- Ataxia and cerebellar anomalies - narrow panel
- Likely inborn error of metabolism
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Undiagnosed metabolic disorders
- Parkinson Disease and Complex Parkinsonism
- Hereditary ataxia with onset in adulthood
- Early onset or syndromic epilepsy
- Childhood onset dystonia, chorea or related movement disorder
- Neuronal ceroid lipofuscinosis
- Hereditary ataxia
- Adult onset neurodegenerative disorder
History Filter Activity
6 Feb 2017, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)DNAJC5 was created by sleigh
6 Feb 2017, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)DNAJC5 was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease)panel. Sources: Emory Genetics Laboratory,Expert Review,Illumina TruGenome Clinical Sequencing Services,Literature,Radboud University Medical Center, Nijmegen,UKGTN