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

FECH (ferrochelatase)
EnsemblGeneIds (GRCh38): ENSG00000066926
EnsemblGeneIds (GRCh37): ENSG00000066926
OMIM: 612386, Gene2Phenotype
FECH is in 9 panels

2 reviews

Sharon Whatley (International Porphyria Network)

Red List (low evidence)

Movement disorders such as dystonia and chorea are not characteristic of erythropoietic protoporphyria, the FECH gene, therefore, is not relevant to this panel.
Created: 28 Aug 2025, 4:06 p.m. | Last Modified: 28 Aug 2025, 4:06 p.m.

Panel Version: 7.3

Created: 28 Aug 2025, 4:06 p.m.
Last Modified: 28 Aug 2025, 4:06 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

Details

Sources

Expert Review Red
London North GLH

OMIM

612386

Clinvar variants

Variants in FECH

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

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