This Panel is marked as Internal
Dystonia - childhood onset
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
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- 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
- Cholestasis
- Mitochondrial liver disease, including transient infantile liver failure
- Monogenic hearing loss
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Intellectual disability
- Inherited white matter disorders
- Paediatric pseudo-obstruction syndrome
- Mitochondrial disorders
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Mitochondrial disorder with complex III deficiency
- Likely inborn error of metabolism
- Possible mitochondrial disorder - nuclear genes
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- Neonatal cholestasis
- White matter disorders and cerebral calcification - narrow panel
- Early onset or syndromic epilepsy
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
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
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: BCS1L was added gene: BCS1L was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal