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Fetal anomalies

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

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Include on the Fetal anomalies panel as a Green gene. Mitochondrial disorder, and severe IUGR in GRACILE syndrome (MIM: 603358).
Created: 25 Jul 2019, 8:04 a.m. | Last Modified: 25 Jul 2019, 8:04 a.m.
Panel Version: 0.311
Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetal exome sequencing in Lord et al., 2019 (PMID:30712880).
Created: 18 Apr 2019, 3:08 p.m.
DDG2P rating in original PAGE list: Confirmed for GRACILE SYNDROME
Created: 11 Dec 2018, 9:04 a.m.

Phenotypes
GRACILE syndrome, 603358

History Filter Activity

25 Jul 2019, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes GRACILE syndrome, 603358 for gene: BCS1L

18 Apr 2019, Gel status: 4

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: BCS1L were set to

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: BCS1L was added gene: BCS1L was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BCS1L were set to GRACILE SYNDROME