This Panel is marked as Deleted
Metabolic renal disease_KidGen
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
- Unknown
- Sources
-
- Expert Review Green
- KidGen_MetabolicRenal v38.1.0
- 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
- Likely inborn error of metabolism
- Monogenic hearing loss
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Paediatric pseudo-obstruction syndrome
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Paediatric or syndromic cardiomyopathy
- Mitochondrial disorder with complex III deficiency
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Early onset or syndromic epilepsy
- Adult onset dystonia, chorea or related movement disorder
- Fetal anomalies
- DDG2P
- Neonatal cholestasis
- White matter disorders and cerebral calcification - narrow panel
History Filter Activity
23 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: BCS1L was added gene: BCS1L was added to Metabolic renal disease_KidGen. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green Mode of inheritance for gene: BCS1L was set to Unknown