Hereditary ataxia

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 11 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

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

Sarah Leigh (Genomics England Curator)

DNAJC5 was created by sleigh