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  3. BCS1L
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Childhood onset dystonia, chorea or related movement disorder

Gene: BCS1L

Green List (high evidence)
BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone)
EnsemblGeneIds (GRCh38): ENSG00000074582
EnsemblGeneIds (GRCh37): ENSG00000074582
OMIM: 603647, Gene2Phenotype
BCS1L is in 20 panels

2 reviews

Zornitza Stark (Australian Genomics)

I don't know

A specific link to dystonia is hard to find.
Created: 5 Sep 2020, 4:12 a.m. | Last Modified: 5 Sep 2020, 4:12 a.m.
Panel Version: 1.49
Created: 5 Sep 2020, 4:12 a.m.
Last Modified: 5 Sep 2020, 4:12 a.m.
Panel version: 1.49

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

History Filter Activity

6 Dec 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to BCS1L. Mode of inheritance for gene BCS1L was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Leigh syndrome, 256000; Bjornstad syndrome, 262000; Mitochondrial complex III deficiency, nuclear type 1, 124000 for gene: BCS1L

6 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: BCS1L was added gene: BCS1L was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: BCS1L was set to