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

CPOX (coproporphyrinogen oxidase)
EnsemblGeneIds (GRCh38): ENSG00000080819
EnsemblGeneIds (GRCh37): ENSG00000080819
OMIM: 612732, Gene2Phenotype
CPOX is in 10 panels

2 reviews

Sharon Whatley (International Porphyria Network)

Red List (low evidence)

Movement disorders such as dystonia and chorea are not characteristic of hereditary coproporphyria. The CPOX gene, therefore, is not relevant to this panel.
Created: 11 Sep 2025, 10:25 a.m. | Last Modified: 11 Sep 2025, 10:25 a.m.

Panel Version: 7.3

Created: 11 Sep 2025, 10:25 a.m.
Last Modified: 11 Sep 2025, 10:25 a.m.
Panel version: 7.3

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

Red List (low evidence)

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

Sources

Expert Review Red
London North GLH

OMIM

612732

Clinvar variants

Variants in CPOX

Penetrance

None

Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

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

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