Hereditary ataxia
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

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, 12:42 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Ceroid lipofuscinosis, neuronal, 4, Parry type 162350

Publications

Created: 6 Feb 2017, 12:42 p.m.

Panel version: 1.50

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

UKGTN
Emory Genetics Laboratory
Illumina TruGenome Clinical Sequencing Services
Expert Review
Radboud University Medical Center, Nijmegen
Literature

Phenotypes

Ceroid lipofuscinosis, neuronal, 4, Parry type 162350

OMIM

611203

Clinvar variants

Variants in DNAJC5

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

6 Feb 2017, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

DNAJC5 was added to Hereditary ataxiapanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Expert Review,Literature,Radboud University Medical Center, Nijmegen,UKGTN

6 Feb 2017, Gel status: 0

Created