Parkinson Disease and Complex Parkinsonism
Gene: DNAJC12

DNAJC12 (DnaJ heat shock protein family (Hsp40) member C12)
EnsemblGeneIds (GRCh38): ENSG00000108176
EnsemblGeneIds (GRCh37): ENSG00000108176
OMIM: 606060, Gene2Phenotype
DNAJC12 is in 8 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Highly variable neurological phenotype, including ID, dystonia, parkinsonism.
Sources: Expert list
Created: 22 Sep 2020, 6:05 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384

Created: 22 Sep 2020, 6:05 a.m.

Panel version: 1.68

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Phenotypes

Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384

OMIM

606060

Clinvar variants

Variants in DNAJC12

Penetrance

None

Panels with this gene

History Filter Activity

22 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: DNAJC12 was added gene: DNAJC12 was added to Parkinson Disease and Complex Parkinsonism. Sources: Expert list Mode of inheritance for gene: DNAJC12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAJC12 were set to Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384 Review for gene: DNAJC12 was set to GREEN

Parkinson Disease and Complex Parkinsonism Gene: DNAJC12