Intellectual_disability
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

0 reviews

Details

Sources

Radboud University Medical Center, Nijmegen

Phenotypes

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

OMIM

603647

Clinvar variants

Variants in BCS1L

Penetrance

Complete

Panels with this gene

History Filter Activity

17 Jan 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: BCS1L were changed from Mitochondrial complex III deficiency, nuclear type 1, 124000Leigh syndrome, 256000Bjornstad syndrome, 262000GRACILE syndrome, 603358 to Mitochondrial complex III deficiency, nuclear type 1, 124000; Leigh syndrome, 256000; Bjornstad syndrome, 262000; GRACILE syndrome, 603358

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

BCS1L was added to Intellectual_disabilitypanel. Sources: Radboud University Medical Center, Nijmegen