Childhood onset dystonia, chorea or related movement disorder
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

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Suggested by Huw and Raquel
Created: 9 Jul 2019, 4:24 p.m. | Last Modified: 9 Jul 2019, 4:24 p.m.

Panel Version: 0.9

Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

PanelApp
Expert Review Green
London North GLH

Phenotypes

Hyperphenylalaninemia, mild, non-BH4-deficient, 617384

OMIM

606060

Clinvar variants

Variants in DNAJC12

Penetrance

None

Publications

28132689

Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to DNAJC12. Mode of inheritance for gene DNAJC12 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Hyperphenylalaninemia, mild, non-BH4-deficient, 617384 for gene: DNAJC12 Publications for gene DNAJC12 were changed from to 28132689

6 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: DNAJC12 was added gene: DNAJC12 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: DNAJC12 was set to

Childhood onset dystonia, chorea or related movement disorder Gene: DNAJC12