Lysosomal Storage Disorder
Gene: DNAJC5

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Adult onset. Multiple unrelated families reported, some variants are recurrent.
Created: 8 Apr 2021, 7:59 a.m. | Last Modified: 8 Apr 2021, 7:59 a.m.

Panel Version: 0.92

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Ceroid lipofuscinosis, neuronal, 4, Parry type, MIM# 162350

Publications

Created: 8 Apr 2021, 7:59 a.m.
Last Modified: 8 Apr 2021, 7:59 a.m.
Panel version: 0.92

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Ceroid lipofuscinosis, neuronal, 4, Parry type, MIM# 162350
MONDO:0008083

OMIM

611203

Clinvar variants

Variants in DNAJC5

Penetrance

None

Publications

Panels with this gene