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

UROD (uroporphyrinogen decarboxylase)
EnsemblGeneIds (GRCh38): ENSG00000126088
EnsemblGeneIds (GRCh37): ENSG00000126088
OMIM: 613521, Gene2Phenotype
UROD is in 5 panels

2 reviews

Sharon Whatley (International Porphyria Network)

Red List (low evidence)

Movement disorders such as dystonia and chorea are not characteristic of porphyria cutanea tarda (PCT) or hepatoerythropoietic porphyria (HEP), the UROD gene, therefore, is not relevant to this panel.
Created: 4 Apr 2026, 7:06 p.m. | Last Modified: 4 Apr 2026, 7:06 p.m.

Panel Version: 7.20

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Porphyria cutanea tarda OMIM:176100; Hepatoerythropoietic porphyria OMIM:176100

Created: 4 Apr 2026, 7:06 p.m.
Last Modified: 4 Apr 2026, 7:06 p.m.
Panel version: 7.20

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

Details

Sources

Expert Review Red
London North GLH

OMIM

613521

Clinvar variants

Variants in UROD

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

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