Parkinson Disease and Complex Parkinsonism
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

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Parkinsonism has been described in some individuals with this progressive adult-onset neurodegenerative disorder. The (346_348delCTC) variant is recurrent, without evidence of founder effect.
Sources: Expert list
Created: 22 Sep 2020, 6:12 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Created: 22 Sep 2020, 6:12 a.m.

Panel version: 1.68

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Phenotypes

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

OMIM

611203

Clinvar variants

Variants in DNAJC5

Penetrance

None

Publications

Panels with this gene

History Filter Activity

22 Sep 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: DNAJC5 was added gene: DNAJC5 was added to Parkinson Disease and Complex Parkinsonism. Sources: Expert list Mode of inheritance for gene: DNAJC5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DNAJC5 were set to 22978711; 21820099; 22235333 Phenotypes for gene: DNAJC5 were set to Ceroid lipofuscinosis, neuronal, 4, Parry type, MIM# 162350 Review for gene: DNAJC5 was set to GREEN

Parkinson Disease and Complex Parkinsonism Gene: DNAJC5