1. Panels
  2. Prepair 1000+
  3. BCS1L
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Prepair 1000+

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

1 review

Lisa Norbart (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease associations. Childhood-onset, can be severe.

Phenotypes reported in association with pathogenic BCS1L variants include mitochondrial complex III deficiency, nuclear type 1 and growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis and early death (GRACILE syndrome).

Clinical severity depends on amount of reactive oxygen species produced in different complexes, proven by different missense variants. The more severe end of the spectrum may present antenatally, e.g. with IUGR.
Created: 10 Oct 2024, 11:39 p.m. | Last Modified: 10 Oct 2024, 11:39 p.m.
Panel Version: 1.390

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
GRACILE syndrome, MIM#603358; Mitochondrial complex III deficiency, nuclear type 1, MIM#124000

Publications

Created: 10 Oct 2024, 11:39 p.m.
Last Modified: 10 Oct 2024, 11:39 p.m.
Panel version: 1.390

History Filter Activity

11 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bcs1l has been classified as Green List (High Evidence).

11 Oct 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: BCS1L were changed from GRACILE syndrome, 603358 (3) to GRACILE syndrome, MIM#603358; Mitochondrial complex III deficiency, nuclear type 1, MIM#124000

11 Oct 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BCS1L were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes GRACILE syndrome, 603358 (3) for gene: BCS1L

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BCS1L was added gene: BCS1L was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BCS1L were set to GRACILE syndrome, 603358 (3)