Mitochondrial disorders
Gene: BCS1LEnsemblGeneIds (GRCh38): ENSG00000074582
EnsemblGeneIds (GRCh37): ENSG00000074582
OMIM: 603647, Gene2Phenotype
BCS1L is in 20 panels
2 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
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
-
- Victorian Clinical Genetics Services
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Expert list
- Expert
- Phenotypes
-
- Isolated complex III deficiency
- Mitochondrial complex III deficiency, nuclear type 1, 124000
- Leigh syndrome, 256000
- Bjornstad syndrome, 262000
- GRACILE syndrome, 603358
- Mitochondrial Diseases
- Mitochondrial Respiratory Chain Complex III Deficiency
- 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
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: BCS1L were changed from Isolated complex III deficiency; Mitochondrial complex III deficiency, nuclear type 1, 124000Leigh syndrome, 256000Bjornstad syndrome, 262000GRACILE syndrome, 603358; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex III Deficiency to Isolated complex III deficiency; Mitochondrial complex III deficiency, nuclear type 1, 124000; Leigh syndrome, 256000; Bjornstad syndrome, 262000; GRACILE syndrome, 603358; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex III Deficiency
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to BCS1L. Panel: Mitochondrial disorders
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene BCS1L was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)BCS1L was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene BCS1L was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)BCS1L was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene BCS1L was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)BCS1L was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene BCS1L was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)BCS1L was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)BCS1L was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services