Structural basal ganglia disorders
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
3 reviews
Carl Fratter (Oxford University Hospitals NHS Trust)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Shamima Rahman (UCL Institute of Child Health)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- OMIM
- 603647
- Clinvar variants
- Variants in BCS1L
- Penetrance
- Complete
- Panels with this gene
-
- Possible mitochondrial disorder - nuclear genes
- Paediatric or syndromic cardiomyopathy
- Monogenic hearing loss
- Early onset or syndromic epilepsy
- Neonatal cholestasis
- Fetal anomalies
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Cholestasis
- Mitochondrial liver disease, including transient infantile liver failure
- Adult onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- DDG2P
- Inherited white matter disorders
- Paediatric pseudo-obstruction syndrome
- Mitochondrial disorder with complex III deficiency
- Likely inborn error of metabolism
History Filter Activity
16 Mar 2017, Gel status: 4
panel promoted to version 1
Sarah Leigh (Genomics England Curator)promoted 16/03/2017
2 Mar 2017, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
1 Mar 2017, Gel status: 0
Added New Source
Manju Kurian (UCL-Institute of Child Health)BCS1L was added to Structural basal ganglia disorderspanel. Sources: Literature
1 Mar 2017, Gel status: 0
Created
Manju Kurian (UCL-Institute of Child Health)BCS1L was created by Manju