This Panel is marked as Deleted
Mitochondrial disorders Victorian Clinical Genetics Services
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
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 603647
- Clinvar variants
- Variants in BCS1L
- Penetrance
- None
- Panels with this gene
-
- Structural basal ganglia disorders
- Intellectual disability
- Cholestasis
- Mitochondrial liver disease, including transient infantile liver failure
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Paediatric pseudo-obstruction syndrome
- Childhood onset dystonia, chorea or related movement disorder
- Early onset or syndromic epilepsy
- Paediatric or syndromic cardiomyopathy
- Mitochondrial disorder with complex III deficiency
- Fetal anomalies
- Mitochondrial disorders
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- Neonatal cholestasis
- White matter disorders and cerebral calcification - narrow panel
- Monogenic hearing loss
- Possible mitochondrial disorder - nuclear genes
- Likely inborn error of metabolism
History Filter Activity
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)BCS1L was added to Mitochondrial disorders Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
12 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)BCS1L was created by Sarah Leigh