Research panel - Severe Paediatric Disorders
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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: BCS1L; Recommended initial gene rating: Green List (high evidence); Phenotypes: Bjornstad syndrome, 262000 (3) | GRACILE syndrome, 603358 (3) | Leigh syndrome, 256000 (3) | Mitochondrial complex III deficiency, nuclear type 1, 124000 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive | Autosomal recessive, Mitochondrial | Autosomal recessive
Created: 20 Feb 2020, 5:16 p.m. | Last Modified: 20 Feb 2020, 5:16 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:16 p.m.
Last Modified: 20 Feb 2020, 5:16 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

Bjornstad syndrome, 262000
GRACILE syndrome, 603358
Mitochondrial complex III deficiency, nuclear type 1, 124000
Leigh syndrome, 256000

OMIM

603647

Clinvar variants

Variants in BCS1L

Penetrance

None

Publications

30847515

Panels with this gene