Inherited white matter disorders
Gene: BCS1LEnsemblGeneIds (GRCh38): ENSG00000074582
EnsemblGeneIds (GRCh37): ENSG00000074582
OMIM: 603647, Gene2Phenotype
BCS1L is in 20 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer. Multiple cases with different variants reported in OMIM for Mitochondrial complex III disorders. On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951. Is rated green in the version 1.7 mitochondrial gene panel.Created: 12 Aug 2016, 11:48 a.m.
Ian Berry (Leeds Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
- Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_662
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Mitochondrial Leukoencephalopathy
- Mitochondrial complex III disorders
- OMIM
- 603647
- Clinvar variants
- Variants in BCS1L
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Structural basal ganglia disorders
- Mitochondrial liver disease, including transient infantile liver failure
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
- Early onset or syndromic epilepsy
- DDG2P
- Monogenic hearing loss
- Undiagnosed metabolic disorders
- Paediatric or syndromic cardiomyopathy
- Childhood onset dystonia, chorea or related movement disorder
- Inherited white matter disorders
- Paediatric pseudo-obstruction syndrome
- Cholestasis
- Mitochondrial disorder with complex III deficiency
- Possible mitochondrial disorder - nuclear genes
- Mitochondrial disorders
- Neonatal cholestasis
- Likely inborn error of metabolism
- Adult onset dystonia, chorea or related movement disorder
- Fetal anomalies
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for BCS1L were set to 25655951
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for BCS1L were set to Mitochondrial Leukoencephalopathy; Mitochondrial complex III disorders
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Ian Berry (Leeds Genetics Laboratory)BCS1L was created by [email protected]
Added New Source
Ian Berry (Leeds Genetics Laboratory)BCS1L was added to Inherited white matter disorderspanel. Sources: Expert list