Adult onset dystonia, chorea or related movement disorder
Gene: BCS1L
BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone)
EnsemblGeneIds (GRCh38): ENSG00000074582
EnsemblGeneIds (GRCh37): ENSG00000074582
OMIM: 603647, Gene2Phenotype
BCS1L is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000074582
EnsemblGeneIds (GRCh37): ENSG00000074582
OMIM: 603647, Gene2Phenotype
BCS1L is in 20 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.Created: 13 Aug 2019, 11:57 a.m. | Last Modified: 13 Aug 2019, 11:57 a.m.
Panel Version: 0.100
Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019Created: 13 Aug 2019, 11:48 a.m. | Last Modified: 13 Aug 2019, 11:48 a.m.
Panel Version: 0.99
Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 1:19 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: early childhood onset? Not a movement disorderCreated: 13 Aug 2019, 11:38 a.m. | Last Modified: 13 Aug 2019, 11:38 a.m.
Panel Version: 0.98
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- NHS GMS
- London North GLH
- Phenotypes
-
- Bjornstad syndrome, 262000
- Leigh syndrome, 256000
- Mitochondrial complex III deficiency, nuclear type 1, 124000
- OMIM
- 603647
- Clinvar variants
- Variants in BCS1L
- Penetrance
- None
- Panels with this gene
-
- Structural basal ganglia disorders
- Monogenic hearing loss
- Mitochondrial liver disease, including transient infantile liver failure
- Likely inborn error of metabolism
- White matter disorders and cerebral calcification - narrow panel
- DDG2P
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Inherited white matter disorders
- Early onset or syndromic epilepsy
- Fetal anomalies
- Cholestasis
- Mitochondrial disorder with complex III deficiency
- Paediatric or syndromic cardiomyopathy
- Possible mitochondrial disorder - nuclear genes
- Intellectual disability
- Neonatal cholestasis
- Paediatric pseudo-obstruction syndrome
- Adult onset dystonia, chorea or related movement disorder
History Filter Activity
13 Aug 2019, Gel status: 1
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Red was added to BCS1L. Rating Changed from Green List (high evidence) to Red List (low evidence)
23 Apr 2019, Gel status: 4
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to BCS1L.
23 Apr 2019, Gel status: 4
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to BCS1L.
9 Jan 2019, Gel status: 4
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: BCS1L were changed from to Bjornstad syndrome, 262000; Leigh syndrome, 256000; Mitochondrial complex III deficiency, nuclear type 1, 124000
3 Jan 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: BCS1L was added gene: BCS1L was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal