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
-
- White matter disorders and cerebral calcification - childhood onset
- Structural basal ganglia disorders
- Paediatric pseudo-obstruction syndrome
- Cholestasis
- Undiagnosed metabolic disorders
- Mitochondrial disorder with complex III deficiency
- Inherited white matter disorders
- Fetal anomalies
- Early onset or syndromic epilepsy
- Possible mitochondrial disorder, nuclear genes
- Likely inborn error of metabolism
- Intellectual disability
- Dystonia, chorea or related movement disorder, childhood onset
- Dystonia, chorea or related movement disorder, adult onset
- Monogenic hearing loss
- Neonatal cholestasis
- Mitochondrial liver disease
- DDG2P
- Mitochondrial disorders
- Paediatric or syndromic cardiomyopathy
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