Early onset dementia (encompassing fronto-temporal dementia and prion disease)

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 13 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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 available
Created: 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

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