Paediatric pseudo-obstruction syndrome
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
3 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to Red and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 7:44 a.m. | Last Modified: 1 Feb 2023, 7:44 a.m.
Panel Version: 0.216
Arina Puzriakova (Genomics England Curator)
Comment on list classification: Could not find clear evidence linking this gene with intestinal pseudo-obstruction and therefore recommending Red gene rating at this time.Created: 20 Dec 2022, 4:59 p.m. | Last Modified: 20 Dec 2022, 4:59 p.m.
Panel Version: 0.23
Eleanor Williams (Genomics England Curator)
Review submitted on behalf of Dr. Anna Rybak and Dr. Osvaldo Borreli, Great Ormond Street Hospital for Children NHS Foundation Trust. Gene group: Mitochondrial depletion disorders (MNGIE, MELAS, myopathy, other). Protein function: Encodes various subunits of the respiratory chain as well as ancillary proteins.Created: 20 Dec 2022, 3:32 p.m. | Last Modified: 20 Dec 2022, 3:32 p.m.
Panel Version: 0.2
Mode of inheritance
Unknown
Phenotypes
Psychomotor regression, failure to thrive, hypotonia, dystonia, ataxia, peripheral neuropathy, ophthalmoparesis, nystagmus, optic atrophy
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- Mitochondrial complex III deficiency, nuclear type 1, OMIM:124000
- OMIM
- 603647
- Clinvar variants
- Variants in BCS1L
- Penetrance
- None
- Panels with this gene
-
- Adult onset dystonia, chorea or related movement disorder
- Monogenic hearing loss
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Neonatal cholestasis
- Possible mitochondrial disorder - nuclear genes
- Fetal anomalies
- Structural basal ganglia disorders
- Cholestasis
- White matter disorders and cerebral calcification - narrow panel
- Undiagnosed metabolic disorders
- Mitochondrial liver disease, including transient infantile liver failure
- Early onset or syndromic epilepsy
- Likely inborn error of metabolism
- Inherited white matter disorders
- Paediatric pseudo-obstruction syndrome
- Paediatric or syndromic cardiomyopathy
- Mitochondrial disorder with complex III deficiency
- Mitochondrial disorders
- Intellectual disability
History Filter Activity
20 Dec 2022, Gel status: 1
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: bcs1l has been classified as Red List (Low Evidence).
20 Dec 2022, Gel status: 1
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: BCS1L was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Dec 2022, Gel status: 1
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: BCS1L were changed from to Mitochondrial complex III deficiency, nuclear type 1, OMIM:124000
20 Dec 2022, Gel status: 1
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: BCS1L was added gene: BCS1L was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: BCS1L was set to