Mitochondrial liver disease, including transient infantile liver failure
Gene: BCS1LEnsemblGeneIds (GRCh38): ENSG00000074582
EnsemblGeneIds (GRCh37): ENSG00000074582
OMIM: 603647, Gene2Phenotype
BCS1L is in 20 panels
3 reviews
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: BCS1L; Suggested intial gene rating: Green; Information provided: Mode of inheritance and phenotype.Created: 1 Feb 2019, 4:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex III deficiency, nuclear type 1, 124000; Leigh syndrome, 256000
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
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Mitochondrial complex III deficiency, nuclear type 1, 124000
- Leigh syndrome, 256000
- OMIM
- 603647
- Clinvar variants
- Variants in BCS1L
- Penetrance
- None
- Panels with this gene
-
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- 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
- Early onset or syndromic epilepsy
- Mitochondrial disorders
- DDG2P
- Intellectual disability
- Inherited white matter disorders
- Paediatric pseudo-obstruction syndrome
- Mitochondrial disorder with complex III deficiency
- Likely inborn error of metabolism
- Possible mitochondrial disorder - nuclear genes
- Paediatric or syndromic cardiomyopathy
- Monogenic hearing loss
- Neonatal cholestasis
- Fetal anomalies
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: BCS1L was added gene: BCS1L was added to Mitochondrial liver disease. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BCS1L were set to Mitochondrial complex III deficiency, nuclear type 1, 124000; Leigh syndrome, 256000