Renal Tubulopathies and related disorders

Gene: BCS1L

Green List (high evidence)

BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone)
EnsemblGeneIds (GRCh38): ENSG00000074582
EnsemblGeneIds (GRCh37): ENSG00000074582
OMIM: 603647, Gene2Phenotype
BCS1L is in 21 panels

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Phenotypes reported in association with pathogenic BCS1L variants include Leigh syndrome; growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis and early death (GRACILE syndrome); and Björnstad syndrome, characterized by abnormal flattening and twisting of hair shafts (pili torti) and hearing problems.
Created: 8 Jan 2021, 10:09 a.m. | Last Modified: 8 Jan 2021, 10:09 a.m.
Panel Version: 0.6022

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bjornstad syndrome, MIM# 262000; Leigh syndrome, MIM# 256000; BCS1L-related mitochondrial disease

Publications

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Clinical severity depends on amount of reactive oxygen species produced in different complexes, proven by different missense variants (PMID: 17314340).
Bjornstad (complex I) < complex III deficiency/GRACILE syndrome (complex III)
Created: 8 Jan 2021, 1:55 a.m. | Last Modified: 8 Jan 2021, 1:55 a.m.
Panel Version: 0.6019

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bjornstad syndrome MIM#262000; GRACILE syndrome, MIM#603358; Mitochondrial complex III deficiency, nuclear type MIM#1124000

Publications

Variants in this GENE are reported as part of current diagnostic practice

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Bjornstad syndrome has Anhidrosis and pili torti as features.
Created: 9 Mar 2020, 9:19 a.m. | Last Modified: 9 Mar 2020, 9:19 a.m.
Panel Version: 0.1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bjornstad syndrome MIM#262000

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
  • Expert Review Green
  • Expert Review Green
  • Literature
  • Royal Melbourne Hospital
  • KidGen_MetabolicRenal v38.1.0
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type MIM#112400
  • Bjornstad syndrome MIM#262000
  • GRACILE syndrome, MIM#603358
OMIM
603647
Clinvar variants
Variants in BCS1L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BCS1L was added gene: BCS1L was added to Renal Tubulopathies and related disorders. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BCS1L were set to 26563427; 17314340; 24172246 Phenotypes for gene: BCS1L were set to Mitochondrial complex III deficiency, nuclear type MIM#112400; Bjornstad syndrome MIM#262000; GRACILE syndrome, MIM#603358