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  2. Childhood onset dystonia, chorea or related movement disorder
  3. PPOX
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Childhood onset dystonia, chorea or related movement disorder

Gene: PPOX

Red List (low evidence)
PPOX (protoporphyrinogen oxidase)
EnsemblGeneIds (GRCh38): ENSG00000143224
EnsemblGeneIds (GRCh37): ENSG00000143224
OMIM: 600923, Gene2Phenotype
PPOX is in 14 panels

2 reviews

Sharon Whatley (International Porphyria Network)

Red List (low evidence)

Movement disorders such as dystonia and chorea are not characteristic of variegate porphyria, the PPOX gene, therefore, is not relevant to this panel.
Created: 8 Sep 2025, 5:06 p.m. | Last Modified: 8 Sep 2025, 5:06 p.m.
Panel Version: 7.3
Created: 8 Sep 2025, 5:06 p.m.
Last Modified: 8 Sep 2025, 5:06 p.m.
Panel version: 7.3

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

Red List (low evidence)

Created: 9 Jul 2019, 4:25 p.m.
Last Modified: 9 Jul 2019, 4:25 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

History Filter Activity

6 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

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