White matter disorders and cerebral calcification - 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
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Mitochondrial complex III disorders
- Mitochondrial Leukoencephalopathy
- OMIM
- 603647
- Clinvar variants
- Variants in BCS1L
- Penetrance
- None
- Publications
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Mitochondrial disorders
- Neonatal cholestasis
- Mitochondrial liver disease
- Early onset or syndromic epilepsy
- White matter disorders and cerebral calcification - childhood onset
- Fetal anomalies
- Structural basal ganglia disorders
- Paediatric pseudo-obstruction syndrome
- Mitochondrial disorder with complex III deficiency
- Possible mitochondrial disorder, nuclear genes
- Dystonia, chorea or related movement disorder, adult onset
- Cholestasis
- Undiagnosed metabolic disorders
- Monogenic hearing loss
- Inherited white matter disorders
- DDG2P
- Intellectual disability
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
History Filter Activity
8 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
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: BCS1L was added gene: BCS1L was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BCS1L were set to 25655951 Phenotypes for gene: BCS1L were set to Mitochondrial complex III disorders; Mitochondrial Leukoencephalopathy